Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAGCTGTTATGACTCCGGCGAGCCT[G/T]TGTTTCTGGGAGAGCGCTACGGCTA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 610308 | ||||||||||||||||||||
Literature Links: |
B3GLCT PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
B3GLCT - beta 3-glucosyltransferase | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_194318.3 | 1224 | Missense Mutation | GTG,TTG | V,L 372 | NP_919299.3 | |
XM_006719768.3 | 1224 | Missense Mutation | GTG,TTG | V,L 353 | XP_006719831.1 | |
XM_011534936.1 | 1224 | Intron | XP_011533238.1 | |||
XM_011534938.2 | 1224 | Missense Mutation | GTG,TTG | V,L 323 | XP_011533240.1 | |
XM_017020395.1 | 1224 | Missense Mutation | GTG,TTG | V,L 323 | XP_016875884.1 |