ABCA8 gene homepage

General information
Gene symbol ABCA8
Gene name ATP binding cassette subfamily A member 8
Chromosome 17
Chromosomal band q24
Imprinted Unknown
Genomic reference NC_000017.11
Transcript reference NM_001288985.1, NM_001288986.1, NM_007168.3, XM_005256938.1, XM_005256940.3, XM_011524188.1, XM_011524189.1, XM_011524190.1, XM_011524191.1, XM_011524192.1
Associated with diseases -
Citation reference(s) -
Curators (0) -
Total number of public variants reported 88
Unique public DNA variants reported 88
Individuals with public variants 106
Hidden variants 0
Date created November 26, 2015
Date last updated December 07, 2017
Version ABCA8:171207

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 38
Entrez Gene 10351
PubMed articles ABCA8
OMIM - Gene 612505
HGMD ABCA8
GeneCards ABCA8
GeneTests ABCA8


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00067831 17 ATP-binding cassette, sub-family A (ABC1), member 8, transcript variant 1 NM_001288985.1 NP_001275914.1 88
00067832 17 ATP-binding cassette, sub-family A (ABC1), member 8, transcript variant 3 NM_001288986.1 NP_001275915.1 88
00067833 17 ATP-binding cassette, sub-family A (ABC1), member 8, transcript variant 2 NM_007168.3 NP_009099.1 88
00067834 17 ATP-binding cassette, sub-family A (ABC1), member 8, transcript variant X1 XM_005256938.1 XP_005256995.1 88
00067835 17 ATP-binding cassette, sub-family A (ABC1), member 8, transcript variant X2 XM_005256940.3 XP_005256997.1 88
00067836 17 ATP-binding cassette, sub-family A (ABC1), member 8, transcript variant X3 XM_011524188.1 XP_011522490.1 74
00067837 17 ATP-binding cassette, sub-family A (ABC1), member 8, transcript variant X4 XM_011524189.1 XP_011522491.1 74
00067838 17 ATP-binding cassette, sub-family A (ABC1), member 8, transcript variant X5 XM_011524190.1 XP_011522492.1 74
00067839 17 ATP-binding cassette, sub-family A (ABC1), member 8, transcript variant X6 XM_011524191.1 XP_011522493.1 73
00067840 17 ATP-binding cassette, sub-family A (ABC1), member 8, transcript variant X7 XM_011524192.1 XP_011522494.1 63


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