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GCTAGAAAAAACCACCTGGAAGGAA[A/G]AGCTGCAATCTCAAATAAAATCACC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 172439 MIM: 172450 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
PAICS 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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PAICS - phosphoribosylaminoimidazole carboxylase; phosphoribosylaminoimidazolesuccinocarboxamide synthase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001079524.1 | 389 | Missense Mutation | AAA,AGA | K,R 53 | NP_001072992.1 | |
NM_001079525.1 | 389 | Missense Mutation | AAA,AGA | K,R 53 | NP_001072993.1 | |
NM_006452.3 | 389 | Missense Mutation | AAA,AGA | K,R 53 | NP_006443.1 | |
XM_011534366.1 | 389 | Missense Mutation | AAA,AGA | K,R 53 | XP_011532668.1 |
PPAT - phosphoribosyl pyrophosphate amidotransferase | ||||||
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There are no transcripts associated with this gene. |