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)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_005957.4 4591 UTR 3 NP_005948.3
XM_005263458.3 4591 Intron XP_005263515.1
XM_005263460.4 4591 Intron XP_005263517.1
XM_005263462.4 4591 Intron XP_005263519.1
XM_005263463.3 4591 Intron XP_005263520.1
XM_011541495.2 4591 Intron XP_011539797.1
XM_011541496.2 4591 Intron XP_011539798.1
XM_017001328.1 4591 Intron XP_016856817.1

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