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TGGAGCATCTTCCACCTCAGCTGCC[A/G]CCTGTAATGGGCATCTTGCCAGTTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 137250 MIM: 600947 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
GAST 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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GAST - gastrin | ||||||
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There are no transcripts associated with this gene. |
HAP1 - huntingtin associated protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001079870.1 | 1702 | Missense Mutation | CGG,TGG | R,W 572 | NP_001073339.1 | |
NM_001079871.1 | 1702 | Missense Mutation | CGG,TGG | R,W 564 | NP_001073340.1 | |
NM_177977.2 | 1702 | Missense Mutation | CGG,TGG | R,W 589 | NP_817084.2 |