Transcript #00002435 (NM_001025580.1, AMMECR1 gene)

Transcript name transcript variant 2
Gene name AMMECR1 (Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1)
Chromosome X
Transcript - NCBI ID NM_001025580.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001020751.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.219C>A r.(?) p.(Pro73=)
-?/. - c.231C>T r.(?) p.(Gly77=)
-?/. - c.251C>T r.(?) p.(Ala84Val)
-?/. - c.283A>T r.(?) p.(Thr95Ser)
-?/. - c.305C>T r.(?) p.(Ala102Val)
-?/. - c.340G>A r.(?) p.(Ala114Thr)
+?/. - c.454dup r.(?) p.(Arg152Profs*10)
+/. - c.473+1G>C r.spl? p.?
-?/. - c.474-47944T>C r.(=) p.(=)
?/. - c.676C>G r.(?) p.(Gln226Glu)
-?/. 5 c.960T>C r.(?) p.(=)
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