| Common Name: | MABC1 |
| HGNC Symbol: | ABCB8 |
| HGNC Description: | ATP-binding cassette, sub-family B (MDR/TAP), member 8 |
| HGNC ID: | 49 |
| Chromosome: | Chr.7(+): 150356443-150375802 |
| Location: | 7q36 |
| OMIM: | 605464 |
| OMIM Phenotype: | None |
| Accessions: | AF047690,AK002018 |
| Nucleotide RefSeq: | NM_007188 |
| Protein RefSeq: | NP_009119 |
| Entrez: | 11194 |
| Isoforms: | 1 |
| Evidence: | Substrate In Vitro Evidence: 1. Peptides, 9-11mers (streptoysin O-permeabilized cells), Momburg F et al, Journal of Experimental Medicine, 1994: 1613-23 |
| Tissues: | None |
| Type: | protein coding |
| Sets: | 0 |
| PharmGKB ID: | PA24390 |
| HPRD ID: | 10400 |
| Substrates: | Peptides (9-11mer) |
| Trivial Names: | MABC1, M-ABC1, EST328128 |
| Transcripts: | NM_007188 [Chr.7(+): 150356443-150375802] |
View on UCSC Genome Browser or Ensembl Genome Browser
| ABCB8 Resequencing
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| Study Name: | ABCB8 Resequencing |
| Experiments: |
SNP impact: P - Public D - Discovered E - Exclusive (dbSNP build 130)
SNP array availability: I - found on Illumina Human1M-Duo BeadChip A - found on Affymetrix Genome-Wide SNP Array 6.0
| Feature | PMT SNP ID | dbSNP/ PubMed | SNP Array Availability | Genomic Position | Transcript Position | Coding Position | Nucleotide Change | Strand, '+' or '-' | Amino Acid Position | Amino Acid Change | Statistics | AA Freq | CA Freq | AS Freq | ME Freq | Sample Set | ||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Promoter | 4205 PDE | 150356433 | -10 | -103 |
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Transmembrane prediction:
Non-synonymous amino acid changes shown in red, indels (insertions and deletions) in blue, and synonymous changes in green. Exon(s) indicated by black outlines.