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TCGCACAGATGTGTGGCTAAGACAA[C/T]GGCAATGACACCGATTGTGGGGACG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604402 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ST3GAL5 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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ST3GAL5 - ST3 beta-galactoside alpha-2,3-sialyltransferase 5 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001042437.1 | 1279 | Missense Mutation | ATT,GTT | I,V 323 | NP_001035902.1 | |
NM_003896.3 | 1279 | Missense Mutation | ATT,GTT | I,V 346 | NP_003887.3 | |
XM_005264630.4 | 1279 | Missense Mutation | ATT,GTT | I,V 293 | XP_005264687.1 | |
XM_011533143.2 | 1279 | Missense Mutation | ATT,GTT | I,V 218 | XP_011531445.1 | |
XM_017005199.1 | 1279 | Missense Mutation | ATT,GTT | I,V 318 | XP_016860688.1 | |
XM_017005200.1 | 1279 | Missense Mutation | ATT,GTT | I,V 318 | XP_016860689.1 | |
XM_017005201.1 | 1279 | Missense Mutation | ATT,GTT | I,V 318 | XP_016860690.1 | |
XM_017005202.1 | 1279 | Missense Mutation | ATT,GTT | I,V 265 | XP_016860691.1 | |
XM_017005203.1 | 1279 | Missense Mutation | ATT,GTT | I,V 218 | XP_016860692.1 | |
XM_017005204.1 | 1279 | Missense Mutation | ATT,GTT | I,V 218 | XP_016860693.1 | |
XM_017005205.1 | 1279 | Missense Mutation | ATT,GTT | I,V 218 | XP_016860694.1 | |
XM_017005206.1 | 1279 | Missense Mutation | ATT,GTT | I,V 218 | XP_016860695.1 | |
XM_017005207.1 | 1279 | Missense Mutation | ATT,GTT | I,V 218 | XP_016860696.1 | |
XM_017005208.1 | 1279 | Missense Mutation | ATT,GTT | I,V 218 | XP_016860697.1 | |
XM_017005209.1 | 1279 | Missense Mutation | ATT,GTT | I,V 218 | XP_016860698.1 | |
XM_017005210.1 | 1279 | Missense Mutation | ATT,GTT | I,V 218 | XP_016860699.1 | |
XM_017005211.1 | 1279 | Missense Mutation | ATT,GTT | I,V 218 | XP_016860700.1 | |
XM_017005212.1 | 1279 | Missense Mutation | ATT,GTT | I,V 218 | XP_016860701.1 | |
XM_017005213.1 | 1279 | Missense Mutation | ATT,GTT | I,V 218 | XP_016860702.1 | |
XM_017005214.1 | 1279 | Missense Mutation | ATT,GTT | I,V 165 | XP_016860703.1 | |
XM_017005215.1 | 1279 | Missense Mutation | ATT,GTT | I,V 165 | XP_016860704.1 |