(used for variant description)
(last modified June 15, 2015)
This file was created to facilitate the description of sequence variants on transcript NM_004820.3 in the CYP7B1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_008338.1, covering CYP7B1 transcript NM_004820.3.
(upstream sequence)
. . g.5024
ggcggggagggggcagtccacgaa c.-181
. . . . . . g.5084
cttttgtcattcagcctgggagaccacggtgacattcctgtctgcgctgcgggcaggcca c.-121
. . . . . . g.5144
gcctctccggccctggactagggggcgccgccgagagaagccgccgcaggctgcagagtc c.-61
. . . . . . g.5204
gccgaccgcgctgttcgcaggcagaccccgggctgcccaccgcggcctagcgcgcgccgg c.-1
. . . . . . g.5264
ATGGCAGGAGAAGTGTCCGCGGCCACGGGCCGCTTTTCGCTGGAGCGGTTGGGCCTCCCG c.60
M A G E V S A A T G R F S L E R L G L P p.20
. . . . . . g.5324
GGCCTGGCCCTCGCCGCGGCCCTGCTGCTCCTGGCCCTCTGCTTGCTTGTCCGGCGCACC c.120
G L A L A A A L L L L A L C L L V R R T p.40
| 02 . . . . . . g.179310
AG | GAGACCCGGTGAGCCTCCATTGATAAAAGGTTGGCTTCCTTATCTTGGAGTGGTCCTG c.180
R | R P G E P P L I K G W L P Y L G V V L p.60
. . . . . . g.179370
AACTTACGAAAAGACCCCTTAAGGTTCATGAAAACACTTCAAAAGCAACATGGTGACACT c.240
N L R K D P L R F M K T L Q K Q H G D T p.80
. | 03 . . . . g.187551
TTCACAGTTCTTCTTGGTG | GAAAGTACATAACATTTATCCTGGACCCCTTCCAGTACCAG c.300
F T V L L G G | K Y I T F I L D P F Q Y Q p.100
. . . . . . g.187611
CTAGTGATAAAAAATCATAAACAATTAAGCTTTCGAGTATTTTCTAATAAATTATTAGAG c.360
L V I K N H K Q L S F R V F S N K L L E p.120
. . . . . . g.187671
AAAGCATTTAGCATCAGTCAGTTGCAAAAAAATCATGACATGAATGATGAGCTTCACCTC c.420
K A F S I S Q L Q K N H D M N D E L H L p.140
. . . . . . g.187731
TGCTATCAATTTTTGCAAGGCAAATCTTTGGACATACTCTTGGAAAGCATGATGCAGAAT c.480
C Y Q F L Q G K S L D I L L E S M M Q N p.160
. . . . . . g.187791
CTAAAACAAGTTTTTGAACCCCAGCTGTTAAAAACCACAAGTTGGGACACGGCAGAACTG c.540
L K Q V F E P Q L L K T T S W D T A E L p.180
. . . . . . g.187851
TATCCATTCTGCAGCTCAATAATATTTGAGATCACATTTACAACTATATATGGAAAAGTT c.600
Y P F C S S I I F E I T F T T I Y G K V p.200
. . . . . . g.187911
ATTGTTTGTGACAACAACAAATTTATTAGTGAGCTAAGAGATGATTTTTTAAAATTTGAT c.660
I V C D N N K F I S E L R D D F L K F D p.220
. . . . . . g.187971
GACAAGTTTGCATATTTAGTATCCAACATACCCATTGAGCTTCTAGGAAATGTCAAGTCT c.720
D K F A Y L V S N I P I E L L G N V K S p.240
. . . . . . g.188031
ATTAGAGAGAAAATTATAAAATGCTTCTCATCAGAAAAGTTAGCCAAGATGCAAGGATGG c.780
I R E K I I K C F S S E K L A K M Q G W p.260
. . . . . . g.188091
TCAGAAGTTTTTCAAAGCAGGCAAGATGTCCTGGAGAAATATTATGTGCACGAGGACCTT c.840
S E V F Q S R Q D V L E K Y Y V H E D L p.280
. | 04 . . . . . g.188609
GAAATAGGAG | CACATCATTTAGGCTTTCTCTGGGCCTCTGTGGCAAACACTATTCCAACT c.900
E I G A | H H L G F L W A S V A N T I P T p.300
. . . . . . g.188669
ATGTTCTGGGCAATGTATTATCTTCTGCGGCACCCAGAAGCTATGGCAGCAGTGCGTGAC c.960
M F W A M Y Y L L R H P E A M A A V R D p.320
. . . . . . g.188729
GAAATTGACCGTTTGCTGCAGTCAACAGGTCAAAAGAAAGGGTCTGGATTTCCCATCCAC c.1020
E I D R L L Q S T G Q K K G S G F P I H p.340
. . . | 05. . . g.198957
CTCACCAGAGAACAATTGGACAGCCTAATCTGCCTAG | AAAGCAGCATTTTTGAAGCTTTA c.1080
L T R E Q L D S L I C L E | S S I F E A L p.360
. . . . . . g.199017
CGACTGTCCTCATATTCAACCACCATTCGTTTTGTTGAGGAGGATTTGACTCTCAGTTCA c.1140
R L S S Y S T T I R F V E E D L T L S S p.380
. . . . . . g.199077
GAGACCGGGGACTACTGTGTGCGAAAGGGAGACTTGGTAGCCATCTTTCCTCCAGTCCTA c.1200
E T G D Y C V R K G D L V A I F P P V L p.400
. . . | 06 . . . g.206889
CATGGTGACCCTGAAATCTTTGAAGCTCCAGAG | GAGTTTAGATATGATCGTTTTATAGAA c.1260
H G D P E I F E A P E | E F R Y D R F I E p.420
. . . . . . g.206949
GATGGTAAGAAGAAAACCACCTTTTTCAAAAGAGGGAAAAAGCTGAAGTGTTACCTAATG c.1320
D G K K K T T F F K R G K K L K C Y L M p.440
. . . . . . g.207009
CCGTTTGGAACTGGAACCAGCAAATGTCCAGGCCGATTTTTTGCACTTATGGAAATAAAA c.1380
P F G T G T S K C P G R F F A L M E I K p.460
. . . . . . g.207069
CAATTGTTGGTTATACTTTTAACTTATTTTGATTTAGAAATAATTGATGATAAGCCCATA c.1440
Q L L V I L L T Y F D L E I I D D K P I p.480
. . . . . . g.207129
GGACTAAACTACAGCCGCTTGTTGTTTGGTATTCAGTATCCAGATTCTGATGTTTTATTT c.1500
G L N Y S R L L F G I Q Y P D S D V L F p.500
. . g.207150
AGATACAAAGTGAAATCTTAG c.1521
R Y K V K S X p.506
. . . . . . g.207210
agaagctaaaaggaaagaaaataaatctatcaaaattaccctaaacatcctaagctcatc c.*60
. . . . . . g.207270
tatttctttttaatttctgcaaatgtaattgatttatttgtttaaaaagcgctaatttct c.*120
. . . . . . g.207330
atttgatctgatatcagtccagtttgtccttagtcacaaagcccatcataatataaaaca c.*180
. . . . . . g.207390
ggatggtggcaggaaaatggacatcaaaatcaacttaagggtaggctcaaaacagggttg c.*240
. . . . . . g.207450
ttgttgtttttttagtttctccttgttgtgattttcacctgttataataaatgtaccttc c.*300
. . . . . . g.207510
acaccaatagattgggcactgtggaatttaaatcactcaaattgttctctaatatgtaaa c.*360
. . . . . . g.207570
attacactttgaactactagaaaattgtgctggaaatggacacagtctaacaaattccaa c.*420
. . . . . . g.207630
attctcacagaagaaggaaattgaatttccatgagttacactggatgaaaatgttccctt c.*480
. . . . . . g.207690
caagtataatattaataatacctatatttccagggtatgtgtgcattaaatgagtttcac c.*540
. . . . . . g.207750
agtagattgaatgcttcaacttcacttcaatatttaatcatgcataaatgttccttatta c.*600
. . . . . . g.207810
ctttgtatactatggctcaatagaacaaaatttctggttacataagacctttcatgttca c.*660
. g.207820
agttagatac c.*670
(downstream sequence)
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