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CTTCCTGGGGGAGGAGCTTCCACTT[C/T]ACTGAGGGATCAAAATCCTCCTCAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612505 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ABCA8 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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ABCA8 - ATP binding cassette subfamily A member 8 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001288985.1 | 4945 | Silent Mutation | GTA,GTG | V,V 1611 | NP_001275914.1 | |
NM_001288986.1 | 4945 | Silent Mutation | GTA,GTG | V,V 1606 | NP_001275915.1 | |
NM_007168.3 | 4945 | Silent Mutation | GTA,GTG | V,V 1571 | NP_009099.1 | |
XM_005256938.2 | 4945 | Silent Mutation | GTA,GTG | V,V 1611 | XP_005256995.1 | |
XM_005256940.4 | 4945 | Silent Mutation | GTA,GTG | V,V 1550 | XP_005256997.1 | |
XM_011524191.2 | 4945 | Intron | XP_011522493.1 | |||
XM_011524192.2 | 4945 | Intron | XP_011522494.1 |