OCA2 gene homepage

General information
Gene symbol OCA2
Gene name oculocutaneous albinism II
Chromosome 15
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_009846.1
Transcript reference NM_000275.2
Exon/intron information NM_000275.2 exon/intron table
Associated with diseases OCA-2, SHEP-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) William (Bill) Oetting
Total number of public variants reported 51
Unique public DNA variants reported 41
Individuals with public variants 205
Hidden variants 0
Notes This database is one of the ”Eye disease” gene variant databases
Date created July 06, 2012
Date last updated March 16, 2019
Version OCA2:190316

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000275.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/OCA2
HGNC 8101
Entrez Gene 4948
PubMed articles OCA2
OMIM - Gene 611409
OMIM - Diseases OCA-2 (albinism, oculocutaneous, type II (OCA-2, brown))
SHEP-1 (pigmentation, hair, blond/brown - eyes, blue/non-blue, type 1 (SHEP-1, skin/hair/eye pigmentation))
HGMD OCA2
GeneCards OCA2
GeneTests OCA2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00014992 15 oculocutaneous albinism II NM_000275.2 NP_000266.2 51


Copyright & disclaimer
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