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CCCCCAGGCCTGGCGCTGCTGCTGC[C/T]GCCCGTCACCCTGGCAGCCCTGGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606248 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
QPRT 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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QPRT - quinolinate phosphoribosyltransferase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001318249.1 | 222 | Intron | NP_001305178.1 | |||
NM_001318250.1 | 222 | Missense Mutation | CCG,CTG | P,L 11 | NP_001305179.1 | |
NM_014298.4 | 222 | Missense Mutation | CCG,CTG | P,L 11 | NP_055113.2 | |
XM_005255223.3 | 222 | Intron | XP_005255280.2 | |||
XM_017023101.1 | 222 | Intron | XP_016878590.1 |