Product Details
- SNP ID
-
rs139688782
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:111681258 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- TGTTACCGTAGGGACCACCAGCTTT[A/G]ACGACCTCATTGCGTGTGTGTCGGC
- Phenotype
-
MIM: 300776
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ALG13
PubMed Links
Gene Details
- Gene
- ALG13
- Gene Name
- ALG13, UDP-N-acetylglucosaminyltransferase subunit
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001039210.4 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
NP_001034299.3 |
NM_001099922.2 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
NP_001093392.1 |
NM_001168385.2 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
NP_001161857.1 |
NM_001257230.1 |
515 |
UTR 5 |
|
|
NP_001244159.1 |
NM_001257231.1 |
515 |
UTR 5 |
|
|
NP_001244160.1 |
NM_001257234.1 |
515 |
UTR 5 |
|
|
NP_001244163.1 |
NM_001257235.2 |
515 |
UTR 5 |
|
|
NP_001244164.1 |
NM_001257237.1 |
515 |
UTR 5 |
|
|
NP_001244166.1 |
NM_001257239.2 |
515 |
Intron |
|
|
NP_001244168.1 |
NM_001257240.2 |
515 |
UTR 5 |
|
|
NP_001244169.1 |
NM_001257241.2 |
515 |
UTR 5 |
|
|
NP_001244170.1 |
NM_001324290.1 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
NP_001311219.1 |
NM_001324291.1 |
515 |
UTR 5 |
|
|
NP_001311220.1 |
NM_001324292.1 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
NP_001311221.1 |
NM_001324293.1 |
515 |
UTR 5 |
|
|
NP_001311222.1 |
NM_001324294.1 |
515 |
Intron |
|
|
NP_001311223.1 |
NM_018466.5 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
NP_060936.1 |
XM_006724693.2 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
XP_006724756.1 |
XM_006724697.3 |
515 |
UTR 5 |
|
|
XP_006724760.2 |
XM_006724698.3 |
515 |
UTR 5 |
|
|
XP_006724761.2 |
XM_011531028.2 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
XP_011529330.1 |
XM_011531030.1 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
XP_011529332.1 |
XM_011531031.1 |
515 |
UTR 5 |
|
|
XP_011529333.1 |
XM_011531032.1 |
515 |
Intron |
|
|
XP_011529334.1 |
XM_011531033.2 |
515 |
Intron |
|
|
XP_011529335.1 |
XM_011531034.2 |
515 |
Intron |
|
|
XP_011529336.1 |
XM_011531037.1 |
515 |
Intron |
|
|
XP_011529339.1 |
XM_017029846.1 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
XP_016885335.1 |
XM_017029847.1 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
XP_016885336.1 |
XM_017029848.1 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
XP_016885337.1 |
XM_017029849.1 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
XP_016885338.1 |
XM_017029850.1 |
515 |
Missense Mutation |
AAC,GAC |
N14D |
XP_016885339.1 |
XM_017029851.1 |
515 |
UTR 5 |
|
|
XP_016885340.1 |
XM_017029852.1 |
515 |
Intron |
|
|
XP_016885341.1 |
XM_017029853.1 |
515 |
Intron |
|
|
XP_016885342.1 |
XM_017029854.1 |
515 |
Intron |
|
|
XP_016885343.1 |
XM_017029855.1 |
515 |
Intron |
|
|
XP_016885344.1 |
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