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ACCTCCTGTAGTATCAATGGAGGTA[G/T]CAGAGCCACACATCTTAGAAACTCT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 138440 MIM: 182465 | ||||||||||||||||||||
Literature Links: |
GART PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
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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 |
GART - phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase | ||||||
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There are no transcripts associated with this gene. |
MIR6501 - microRNA 6501 | ||||||
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There are no transcripts associated with this gene. |
SON - SON DNA binding protein | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001291411.1 | 644 | Missense Mutation | GCA,TCA | A,S 197 | NP_001278340.1 | |
NM_001291412.1 | 644 | Intron | NP_001278341.1 | |||
NM_032195.2 | 644 | Missense Mutation | GCA,TCA | A,S 197 | NP_115571.2 | |
NM_138927.2 | 644 | Missense Mutation | GCA,TCA | A,S 197 | NP_620305.2 |