Product Details
- SNP ID
-
rs17128366
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:19405961 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- GCAGCGCTTCTCATGCCAGAGGTGG[A/T]AGAGTCCTCGCACAGGCGTCCGTAC
- Phenotype
-
MIM: 616615
MIM: 614968
- Polymorphism
- A/T, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
CSGALNACT1
PubMed Links
Gene Details
- Gene
- CSGALNACT1
- Gene Name
- chondroitin sulfate N-acetylgalactosaminyltransferase 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001130518.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
NP_001123990.1 |
NM_018371.4 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
NP_060841.5 |
XM_006716358.2 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_006716421.1 |
XM_006716359.2 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_006716422.1 |
XM_006716360.2 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_006716423.1 |
XM_006716361.2 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_006716424.1 |
XM_006716362.2 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_006716425.1 |
XM_006716363.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_006716426.1 |
XM_006716364.3 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_006716427.1 |
XM_011544578.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_011542880.1 |
XM_011544579.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_011542881.1 |
XM_011544580.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_011542882.1 |
XM_011544582.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_011542884.1 |
XM_011544583.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_011542885.1 |
XM_011544584.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_011542886.1 |
XM_011544585.2 |
2732 |
Missense Mutation |
TAC,TTC |
Y225F |
XP_011542887.1 |
XM_017013623.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869112.1 |
XM_017013624.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869113.1 |
XM_017013625.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869114.1 |
XM_017013626.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869115.1 |
XM_017013627.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869116.1 |
XM_017013628.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869117.1 |
XM_017013629.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869118.1 |
XM_017013630.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869119.1 |
XM_017013631.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869120.1 |
XM_017013632.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869121.1 |
XM_017013633.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869122.1 |
XM_017013634.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869123.1 |
XM_017013635.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869124.1 |
XM_017013636.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869125.1 |
XM_017013637.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869126.1 |
XM_017013638.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y473F |
XP_016869127.1 |
XM_017013639.1 |
2732 |
Missense Mutation |
TAC,TTC |
Y225F |
XP_016869128.1 |
- Gene
- SH2D4A
- Gene Name
- SH2 domain containing 4A
There are no transcripts associated with this gene.
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