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CTTACCCAGCATGCTTGTACTCCAC[C/T]ACTGGAAGTAGCCTGTCACTTTAAA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612013 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CC2D2A 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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CC2D2A - coiled-coil and C2 domain containing 2A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080522.2 | 1149 | Intron | NP_001073991.2 | |||
NM_001164720.1 | 1149 | Intron | NP_001158192.1 | |||
NM_020785.2 | 1149 | Intron | NP_065836.2 | |||
XM_005248177.1 | 1149 | Intron | XP_005248234.1 | |||
XM_011513872.2 | 1149 | Intron | XP_011512174.1 | |||
XM_011513874.2 | 1149 | UTR 5 | XP_011512176.1 | |||
XM_017008482.1 | 1149 | Intron | XP_016863971.1 |