Product Details
- SNP ID
-
rs201356402
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.12:6541536 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CCGGTCTCCAGACTGGGTGATGAGC[C/T]GGCGGCAGGTCTCCATCTGCACGTC
- Phenotype
-
MIM: 138400
MIM: 610495
MIM: 615638
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
GAPDH
PubMed Links
Gene Details
- Gene
- GAPDH
- Gene Name
- glyceraldehyde-3-phosphate dehydrogenase
There are no transcripts associated with this gene.
- Gene
- IFFO1
- Gene Name
- intermediate filament family orphan 1
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001039670.2 |
1899 |
Missense Mutation |
CAG,CGG |
Q521R |
NP_001034759.1 |
NM_001193457.1 |
1899 |
Missense Mutation |
CAG,CGG |
Q529R |
NP_001180386.1 |
NM_080730.4 |
1899 |
Missense Mutation |
CAG,CGG |
Q520R |
NP_542768.2 |
XM_006718975.3 |
1899 |
Missense Mutation |
CAG,CGG |
Q520R |
XP_006719038.1 |
XM_006718976.3 |
1899 |
Missense Mutation |
CAG,CGG |
Q518R |
XP_006719039.1 |
XM_006718977.3 |
1899 |
Missense Mutation |
CAG,CGG |
Q517R |
XP_006719040.1 |
XM_006718981.3 |
1899 |
Missense Mutation |
CAG,CGG |
Q213R |
XP_006719044.1 |
XM_011520947.2 |
1899 |
Missense Mutation |
CAG,CGG |
Q609R |
XP_011519249.1 |
XM_011520948.2 |
1899 |
Missense Mutation |
CAG,CGG |
Q608R |
XP_011519250.1 |
XM_011520949.2 |
1899 |
Missense Mutation |
CAG,CGG |
Q606R |
XP_011519251.1 |
XM_011520952.2 |
1899 |
Missense Mutation |
CAG,CGG |
Q301R |
XP_011519254.1 |
XM_017019169.1 |
1899 |
Intron |
|
|
XP_016874658.1 |
XM_017019170.1 |
1899 |
Missense Mutation |
CAG,CGG |
Q546R |
XP_016874659.1 |
XM_017019171.1 |
1899 |
Missense Mutation |
CAG,CGG |
Q519R |
XP_016874660.1 |
XM_017019172.1 |
1899 |
Missense Mutation |
CAG,CGG |
Q302R |
XP_016874661.1 |
XM_017019173.1 |
1899 |
Missense Mutation |
CAG,CGG |
Q299R |
XP_016874662.1 |
- Gene
- NCAPD2
- Gene Name
- non-SMC condensin I complex subunit D2
There are no transcripts associated with this gene.
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