| Common Name: | ABCB5 |
| HGNC Symbol: | ABCB5 |
| HGNC Description: | ATP-binding cassette, sub-family B (MDR/TAP), member 5 |
| HGNC ID: | 46 |
| Chromosome: | Chr.7(+): 20653741-20761821 |
| Location: | 7p15.3 |
| OMIM: | 611785 |
| OMIM Phenotype: | None |
| Accessions: | AY234788 |
| Nucleotide RefSeq: | NM_178559 |
| Protein RefSeq: | NP_848654 |
| Entrez: | 340273 |
| Isoforms: | 1 |
| Evidence: | Substrate In Vitro Evidence: Rhodamine - FACS analysis on MCF-7 cells transfected with gene. Frank NY, et al. J Biol Chem. 2003 Nov 21; 278(47): 47156-65. Tissue Distribution Evidence: Testis, Prostate, Uterus - TaqMan RT-PCR. Langmann T, et al. Clinical Chemistry. 2003; 49: 230-8. |
| Tissues: | Testis, Prostate, Uterus |
| Type: | protein coding |
| Sets: | 0 |
| PharmGKB ID: | PA24387 |
| HPRD ID: | |
| Substrates: | Rhodamine |
| Trivial Names: | ABCB5beta, EST422562, ABCB5alpha |
| Transcripts: | NM_178559 [Chr.7(+): 20653741-20761821] |
View on UCSC Genome Browser or Ensembl Genome Browser
| ABCB5 Resequencing
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| Study Name: | ABCB5 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 | ||||||||||||||||||||||||||||||||||||||
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4168 PDE | 20653168 | -573 | -4403 |
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4169 PDE | I | 20653435 | -306 | -4136 |
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| Promoter | 4170 PDE | IA | 20653706 | -35 | -3865 |
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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.