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GTCTCAGAAGGGGCCATAAGTGGAC[A/G]TGGCTGTTGCAGAAAGTGAGAGGAG
Species: |
Human | |||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611956 MIM: 607792 | |||||||||||||||||||||||
Literature Links: |
C3orf52 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 - 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 |
C3orf52 - chromosome 3 open reading frame 52 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001171747.1 | 613 | Intron | NP_001165218.1 | |||
NM_024616.2 | 613 | Intron | NP_078892.2 | |||
XM_011513133.2 | 613 | Intron | XP_011511435.1 | |||
XM_017007181.1 | 613 | Intron | XP_016862670.1 |
GCSAM - germinal center associated signaling and motility | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001190259.1 | 613 | Missense Mutation | CGT,TGT | R,C 167 | NP_001177188.1 | |
NM_001190260.1 | 613 | Missense Mutation | CGT,TGT | R,C 150 | NP_001177189.1 | |
NM_152785.4 | 613 | Missense Mutation | CGT,TGT | R,C 165 | NP_689998.1 | |
XM_005247272.2 | 613 | Missense Mutation | CGT,TGT | R,C 148 | XP_005247329.1 | |
XM_011512627.2 | 613 | Missense Mutation | CGT,TGT | R,C 168 | XP_011510929.1 | |
XM_011512628.2 | 613 | Missense Mutation | CGT,TGT | R,C 166 | XP_011510930.1 | |
XM_011512629.1 | 613 | Missense Mutation | CGT,TGT | R,C 149 | XP_011510931.1 | |
XM_011512630.1 | 613 | Missense Mutation | CGT,TGT | R,C 149 | XP_011510932.1 |