Product Details

SNP ID

rs116698217

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:11787875 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGACTCAACTCCCCTTTCCAGGG[T/C]GCAGGGAACATTCCCTCTGCCCTGC

Phenotype

MIM: 607093

Polymorphism

T/C, 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	3973	Missense Mutation	CGC,TGC	R1226C	NP_001010881.1
XM_011541269.2	3973	Missense Mutation	CGC,TGC	R1271C	XP_011539571.2
XM_011541271.2	3973	Missense Mutation	CGC,TGC	R1253C	XP_011539573.2
XM_011541272.2	3973	Missense Mutation	CGC,TGC	R1271C	XP_011539574.1
XM_011541274.2	3973	Missense Mutation	CGC,TGC	R1226C	XP_011539576.2
XM_011541275.2	3973	Missense Mutation	CGC,TGC	R1226C	XP_011539577.2
XM_011541276.2	3973	Missense Mutation	CGC,TGC	R1271C	XP_011539578.1
XM_011541277.2	3973	Missense Mutation	CGC,TGC	R1271C	XP_011539579.1
XM_011541278.2	3973	Missense Mutation	CGC,TGC	R1271C	XP_011539580.1
XM_011541280.2	3973	Missense Mutation	CGC,TGC	R698C	XP_011539582.2
XM_011541281.2	3973	Missense Mutation	CGC,TGC	R698C	XP_011539583.2
XM_017001062.1	3973	Missense Mutation	CGC,TGC	R1271C	XP_016856551.1
XM_017001063.1	3973	Missense Mutation	CGC,TGC	R1271C	XP_016856552.1
XM_017001064.1	3973	Missense Mutation	CGC,TGC	R1271C	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	3973	UTR 3			NP_005948.3
XM_005263458.3	3973	Intron			XP_005263515.1
XM_005263460.4	3973	Intron			XP_005263517.1
XM_005263462.4	3973	Intron			XP_005263519.1
XM_005263463.3	3973	Intron			XP_005263520.1
XM_011541495.2	3973	Intron			XP_011539797.1
XM_011541496.2	3973	Intron			XP_011539798.1
XM_017001328.1	3973	Intron			XP_016856817.1

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