Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTTGATGAACAATCATCAGCTGGAA[C/T]TGGCAAAGCAGCTACACAAAGAGGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||||||||||||||||||||
Phenotype: |
MIM: 300776 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ALG13 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
|
ALG13 - ALG13, UDP-N-acetylglucosaminyltransferase subunit | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001039210.4 | 809 | Missense Mutation | ACT,ATT | T,I 92 | NP_001034299.3 | |
NM_001099922.2 | 809 | Silent Mutation | CTG,TTG | L,L 112 | NP_001093392.1 | |
NM_001168385.2 | 809 | Silent Mutation | CTG,TTG | L,L 112 | NP_001161857.1 | |
NM_001257230.1 | 809 | Silent Mutation | CTG,TTG | L,L 8 | NP_001244159.1 | |
NM_001257231.1 | 809 | Silent Mutation | CTG,TTG | L,L 34 | NP_001244160.1 | |
NM_001257234.1 | 809 | Silent Mutation | CTG,TTG | L,L 8 | NP_001244163.1 | |
NM_001257235.2 | 809 | Silent Mutation | CTG,TTG | L,L 8 | NP_001244164.1 | |
NM_001257237.1 | 809 | Silent Mutation | CTG,TTG | L,L 8 | NP_001244166.1 | |
NM_001257239.2 | 809 | Silent Mutation | CTG,TTG | L,L 8 | NP_001244168.1 | |
NM_001257240.2 | 809 | Silent Mutation | CTG,TTG | L,L 8 | NP_001244169.1 | |
NM_001257241.2 | 809 | Silent Mutation | CTG,TTG | L,L 34 | NP_001244170.1 | |
NM_001324290.1 | 809 | Silent Mutation | CTG,TTG | L,L 114 | NP_001311219.1 | |
NM_001324291.1 | 809 | Silent Mutation | CTG,TTG | L,L 8 | NP_001311220.1 | |
NM_001324292.1 | 809 | Silent Mutation | CTG,TTG | L,L 112 | NP_001311221.1 | |
NM_001324293.1 | 809 | Silent Mutation | CTG,TTG | L,L 8 | NP_001311222.1 | |
NM_001324294.1 | 809 | Silent Mutation | CTG,TTG | L,L 8 | NP_001311223.1 | |
NM_018466.5 | 809 | Silent Mutation | CTG,TTG | L,L 112 | NP_060936.1 | |
XM_006724693.2 | 809 | Silent Mutation | CTG,TTG | L,L 112 | XP_006724756.1 | |
XM_006724697.3 | 809 | Silent Mutation | CTG,TTG | L,L 8 | XP_006724760.2 | |
XM_006724698.3 | 809 | Silent Mutation | CTG,TTG | L,L 8 | XP_006724761.2 | |
XM_011531028.2 | 809 | Silent Mutation | CTG,TTG | L,L 112 | XP_011529330.1 | |
XM_011531030.1 | 809 | Silent Mutation | CTG,TTG | L,L 112 | XP_011529332.1 | |
XM_011531031.1 | 809 | Silent Mutation | CTG,TTG | L,L 8 | XP_011529333.1 | |
XM_011531032.1 | 809 | Silent Mutation | CTG,TTG | L,L 8 | XP_011529334.1 | |
XM_011531033.2 | 809 | Silent Mutation | CTG,TTG | L,L 8 | XP_011529335.1 | |
XM_011531034.2 | 809 | Intron | XP_011529336.1 | |||
XM_011531037.1 | 809 | Intron | XP_011529339.1 | |||
XM_017029846.1 | 809 | Silent Mutation | CTG,TTG | L,L 112 | XP_016885335.1 | |
XM_017029847.1 | 809 | Silent Mutation | CTG,TTG | L,L 112 | XP_016885336.1 | |
XM_017029848.1 | 809 | Silent Mutation | CTG,TTG | L,L 112 | XP_016885337.1 | |
XM_017029849.1 | 809 | Silent Mutation | CTG,TTG | L,L 112 | XP_016885338.1 | |
XM_017029850.1 | 809 | Silent Mutation | CTG,TTG | L,L 112 | XP_016885339.1 | |
XM_017029851.1 | 809 | UTR 5 | XP_016885340.1 | |||
XM_017029852.1 | 809 | Intron | XP_016885341.1 | |||
XM_017029853.1 | 809 | Intron | XP_016885342.1 | |||
XM_017029854.1 | 809 | Intron | XP_016885343.1 | |||
XM_017029855.1 | 809 | Intron | XP_016885344.1 |