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GCCAAGTGCCGCAGCTCCTGGCAAG[C/G]GTCGGAGACGGAGGATCTGTCCACA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 118990 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
SSFA2 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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SSFA2 - sperm specific antigen 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130445.2 | 366 | Missense Mutation | GCG,GGG | A,G 36 | NP_001123917.1 | |
NM_001287503.1 | 366 | Missense Mutation | GCG,GGG | A,G 36 | NP_001274432.1 | |
NM_001287504.1 | 366 | UTR 5 | NP_001274433.1 | |||
NM_001287505.1 | 366 | Missense Mutation | GCG,GGG | A,G 36 | NP_001274434.1 | |
NM_006751.6 | 366 | Missense Mutation | GCG,GGG | A,G 36 | NP_006742.2 | |
XM_005246812.1 | 366 | Missense Mutation | GCG,GGG | A,G 36 | XP_005246869.1 | |
XM_005246813.1 | 366 | Missense Mutation | GCG,GGG | A,G 36 | XP_005246870.1 | |
XM_011511701.2 | 366 | Missense Mutation | GCG,GGG | A,G 36 | XP_011510003.1 | |
XM_011511702.2 | 366 | Intron | XP_011510004.1 | |||
XM_011511703.2 | 366 | Intron | XP_011510005.1 | |||
XM_017004782.1 | 366 | Missense Mutation | GCG,GGG | A,G 36 | XP_016860271.1 |