| Common Name: | ABC28 |
| HGNC Symbol: | ABCF2 |
| HGNC Description: | ATP-binding cassette, sub-family F (GCN20), member 2 |
| HGNC ID: | 71 |
| Chromosome: | Chr.7(-): 150535856-150555250 |
| Location: | 7q36 |
| OMIM: | |
| OMIM Phenotype: | None |
| Accessions: | AF261091,AL050291 |
| Nucleotide RefSeq: | NM_005692 |
| Protein RefSeq: | NP_005683 |
| Entrez: | 10061 |
| Isoforms: | 2 |
| Evidence: | Tissue Distribution Evidence:
Ubiquitous (located on mitochondria)
- Northern blot. Hogue DL, et al. J Mol Biol. 1999 Jan 8;285(1):379-89.
Testis, Trachea, Lung, Uterus > Placenta, Prostate, Spleen
- TaqMan RT-PCR. Langmann T, et al. Clinical Chemistry. 2003; 49: 230-8. |
| Tissues: | Ubiquitous |
| Type: | protein coding |
| Sets: | 0 |
| PharmGKB ID: | PA24406 |
| HPRD ID: | 12403 |
| Substrates: | No data |
| Trivial Names: | ABC28, M-ABC1, HUSSY-18, EST133090, DKFZp586K1823 |
| Transcripts: | NM_005692 [Chr.7(-): 150535856-150555250]
NM_007189 [Chr.7(-): 150540509-150555250]
|
| Study Name: | ABCF2 Resequencing |
| Experiments: |
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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 |
|---|
| | 4198 | | | 150555673 | -423 | -1196 | | CGAAACAATGGGAGAGGAGAGGTGG G → A AGCGTGAGGGGAGGACTAAAATGAA |
| + | |
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| | 4197 | | | 150555580 | -330 | -1103 | | TGTTGTGGAGTTACGAGTTTTTAGA G → A CTACCTAACCGACTCAGGCAGCAGG |
| + | |
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| Promoter | 4196 | | | 150555488 | -238 | -1011 | | TCGGGCGCTGGAAACTGCAAATCCC A → G GATTGCTCGTTGGATAAACCGGCTG |
| + | |
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| Promoter | 4195 | | | 150555403 | -153 | -926 | | GGGGCCGCGTGACGCCATCAGGATG C → A GCGAGGCTCGGGGAGGGGGCGGGAT |
| + | |
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| Promoter | 4194 | | | 150555300 | -50 | -823 | | TTCTCGGCGCGCCGCGCTGCCTCCT T → C GGAAGTGTAGTCCTCAAGTTGCAGC |
| + | |
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TOPO2 image is not available.
