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TGGTGTCCTCTCTCACTGTGTCTTC[C/T]TGCTCCTTGAGGAACCTGGGAGAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 614178 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CRACR2A 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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CRACR2A - calcium release activated channel regulator 2A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001144958.1 | 1547 | Silent Mutation | CAA,CAG | Q,Q 709 | NP_001138430.1 | |
NM_032680.3 | 1547 | Intron | NP_116069.1 | |||
XM_006719021.3 | 1547 | Silent Mutation | CAA,CAG | Q,Q 710 | XP_006719084.1 | |
XM_011521034.2 | 1547 | Silent Mutation | CAA,CAG | Q,Q 710 | XP_011519336.1 | |
XM_011521036.2 | 1547 | Silent Mutation | CAA,CAG | Q,Q 710 | XP_011519338.1 | |
XM_011521037.2 | 1547 | Silent Mutation | CAA,CAG | Q,Q 471 | XP_011519339.1 | |
XM_011521038.2 | 1547 | Silent Mutation | CAA,CAG | Q,Q 471 | XP_011519340.1 |