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AGTGTTTCAGAATTGTTGGAACTTT[A/G]TGAGGAAGATCCTGAAGAAATTCTT
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 |
---|---|---|
Global - Not Available | 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 |
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 | 786 | Missense Mutation | TAT,TGT | Y,C 176 | NP_001123917.1 | |
NM_001287503.1 | 786 | Missense Mutation | TAT,TGT | Y,C 176 | NP_001274432.1 | |
NM_001287504.1 | 786 | Missense Mutation | TAT,TGT | Y,C 23 | NP_001274433.1 | |
NM_001287505.1 | 786 | Intron | NP_001274434.1 | |||
NM_006751.6 | 786 | Missense Mutation | TAT,TGT | Y,C 176 | NP_006742.2 | |
XM_005246812.1 | 786 | Missense Mutation | TAT,TGT | Y,C 176 | XP_005246869.1 | |
XM_005246813.1 | 786 | Missense Mutation | TAT,TGT | Y,C 176 | XP_005246870.1 | |
XM_011511701.2 | 786 | Missense Mutation | TAT,TGT | Y,C 176 | XP_011510003.1 | |
XM_011511702.2 | 786 | Intron | XP_011510004.1 | |||
XM_011511703.2 | 786 | Intron | XP_011510005.1 | |||
XM_017004782.1 | 786 | Missense Mutation | TAT,TGT | Y,C 176 | XP_016860271.1 |