Product Details
- SNP ID
-
rs868014
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
49
- Location
-
Chr.1:11789390 on Build GRCh38
- Set Membership
-
HapMap
- Context Sequence [VIC/FAM]
- CCCCGAGAGTGGACAGGAAGCCGCC[A/G]GAGCACCGCGGGGTTGGGGGCTTGG
- Phenotype
-
MIM: 607093
- Polymorphism
- A/G, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
C1orf167
PubMed Links
Gene Details
- Gene
- C1orf167
- Gene Name
- chromosome 1 open reading frame 167
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001010881.1 |
4591 |
Missense Mutation |
AGA,GGA |
R1432G |
NP_001010881.1 |
XM_011541269.2 |
4591 |
Missense Mutation |
AGA,GGA |
R1477G |
XP_011539571.2 |
XM_011541271.2 |
4591 |
Missense Mutation |
AGA,GGA |
R1459G |
XP_011539573.2 |
XM_011541272.2 |
4591 |
Missense Mutation |
AGA,GGA |
R1477G |
XP_011539574.1 |
XM_011541274.2 |
4591 |
Missense Mutation |
AGA,GGA |
R1432G |
XP_011539576.2 |
XM_011541275.2 |
4591 |
Missense Mutation |
AGA,GGA |
R1432G |
XP_011539577.2 |
XM_011541276.2 |
4591 |
Silent Mutation |
CCA,CCG |
P1445P |
XP_011539578.1 |
XM_011541277.2 |
4591 |
Missense Mutation |
AGA,GGA |
R1414G |
XP_011539579.1 |
XM_011541278.2 |
4591 |
Intron |
|
|
XP_011539580.1 |
XM_011541280.2 |
4591 |
Missense Mutation |
AGA,GGA |
R904G |
XP_011539582.2 |
XM_011541281.2 |
4591 |
Missense Mutation |
AGA,GGA |
R904G |
XP_011539583.2 |
XM_017001062.1 |
4591 |
Missense Mutation |
AGA,GGA |
R1477G |
XP_016856551.1 |
XM_017001063.1 |
4591 |
Missense Mutation |
AGA,GGA |
R1477G |
XP_016856552.1 |
XM_017001064.1 |
4591 |
Intron |
|
|
XP_016856553.1 |
- Gene
- LOC102724659
- Gene Name
- uncharacterized LOC102724659
There are no transcripts associated with this gene.
- Gene
- MTHFR
- Gene Name
- methylenetetrahydrofolate reductase (NAD(P)H)
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