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GGCCCTGCCCGTAGAAAGACCAGCA[A/G]CAGATCTCGTCCCCCAGGACATCCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608947 | ||||||||||||||||||||
Literature Links: |
ASPHD1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
ASPHD1 - aspartate beta-hydroxylase domain containing 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_181718.3 | 953 | Intron | NP_859069.2 | |||
XM_017023107.1 | 953 | Intron | XP_016878596.1 |
KCTD13 - potassium channel tetramerization domain containing 13 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_178863.4 | 953 | Silent Mutation | TGC,TGT | C,C 222 | NP_849194.1 | |
XM_011545783.2 | 953 | Silent Mutation | TGC,TGT | C,C 240 | XP_011544085.1 | |
XM_011545784.2 | 953 | Silent Mutation | TGC,TGT | C,C 95 | XP_011544086.1 | |
XM_017023104.1 | 953 | Silent Mutation | TGC,TGT | C,C 71 | XP_016878593.1 | |
XM_017023105.1 | 953 | Intron | XP_016878594.1 | |||
XM_017023106.1 | 953 | Intron | XP_016878595.1 |