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AAAGGGAGGAGTTTAGTTGGCATTC[G/T]GGGGCATGCTAACATGAGGGCGATG
Species: |
Human | |||||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 114130 | |||||||||||||||||||||||||||||||||||||||||
Literature Links: |
CALCA 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)
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EUR
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AMR
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CALCA - calcitonin related polypeptide alpha | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001033952.2 | 563 | Missense Mutation | CAG,CCG | Q,P 138 | NP_001029124.1 | |
NM_001033953.2 | 563 | Intron | NP_001029125.1 | |||
NM_001741.2 | 563 | Missense Mutation | CAG,CCG | Q,P 138 | NP_001732.1 | |
XM_017018283.1 | 563 | Missense Mutation | CAG,CCG | Q,P 138 | XP_016873772.1 | |
XM_017018284.1 | 563 | Missense Mutation | CAG,CCG | Q,P 138 | XP_016873773.1 |
Set Membership: |
HapMap |