Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
AGGGACTCAATACAGATGAGAACAC[A/G]CACCACGTCCCGGGCCCGCAGCCGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
37 submissions
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 615291 MIM: 616593 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
B3GALT6 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
---|---|---|---|---|---|
Global
|
Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
|
African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
|
Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
|
Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
|
|||||
AMR
|
B3GALT6 - beta-1,3-galactosyltransferase 6 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
FAM132A - family with sequence similarity 132 member A | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001014980.2 | 817 | Missense Mutation | CGT,TGT | R,C 231 | NP_001014980.1 | |
XM_011541435.2 | 817 | Silent Mutation | TGC,TGT | C,C 235 | XP_011539737.1 | |
XM_011541436.2 | 817 | Silent Mutation | TGC,TGT | C,C 229 | XP_011539738.1 | |
XM_011541437.1 | 817 | Silent Mutation | TGC,TGT | C,C 163 | XP_011539739.1 |