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TCCCGCAACTTCTCCAGCTGCCCCA[A/G]TGGCTCCATCCAGTGGATATGGGAT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
58 submissions
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Phenotype: |
MIM: 603418 MIM: 614760 | ||||||||||||||||||||||||||||||||||||||||||||
Literature Links: |
AKR7A2 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)
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EAS
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African American - Not Available | YRI (Yoruba)
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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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AKR7A2 - aldo-keto reductase family 7 member A2 | ||||||
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There are no transcripts associated with this gene. |
PQLC2 - PQ loop repeat containing 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001040125.1 | 769 | Missense Mutation | AAT,AGT | N,S 16 | NP_001035214.1 | |
NM_001040126.1 | 769 | Intron | NP_001035215.1 | |||
NM_001287531.1 | 769 | Intron | NP_001274460.1 | |||
NM_017765.2 | 769 | Missense Mutation | AAT,AGT | N,S 16 | NP_060235.2 | |
XM_005245916.2 | 769 | Missense Mutation | AAT,AGT | N,S 16 | XP_005245973.1 | |
XM_006710710.2 | 769 | UTR 5 | XP_006710773.1 | |||
XM_006710711.2 | 769 | UTR 5 | XP_006710774.1 | |||
XM_011541634.2 | 769 | Missense Mutation | AAT,AGT | N,S 16 | XP_011539936.1 |