Product Details

SNP ID

rs3737967

Assay Type

Functionally tested

NCBI dbSNP Submissions

36

Location

Chr.1:11787392 on Build GRCh38

Set Membership

HapMap JSNP

Context Sequence [VIC/FAM]

CCTCTCTGGCTATTCCTTCAGACCC[A/G]CAGCTGCTGGACACAGGCCACAGAG

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	3869	Missense Mutation	CAC,CGC	H1191R	NP_001010881.1
XM_011541269.2	3869	Missense Mutation	CAC,CGC	H1236R	XP_011539571.2
XM_011541271.2	3869	Missense Mutation	CAC,CGC	H1218R	XP_011539573.2
XM_011541272.2	3869	Missense Mutation	CAC,CGC	H1236R	XP_011539574.1
XM_011541274.2	3869	Missense Mutation	CAC,CGC	H1191R	XP_011539576.2
XM_011541275.2	3869	Missense Mutation	CAC,CGC	H1191R	XP_011539577.2
XM_011541276.2	3869	Missense Mutation	CAC,CGC	H1236R	XP_011539578.1
XM_011541277.2	3869	Missense Mutation	CAC,CGC	H1236R	XP_011539579.1
XM_011541278.2	3869	Missense Mutation	CAC,CGC	H1236R	XP_011539580.1
XM_011541280.2	3869	Missense Mutation	CAC,CGC	H663R	XP_011539582.2
XM_011541281.2	3869	Missense Mutation	CAC,CGC	H663R	XP_011539583.2
XM_017001062.1	3869	Missense Mutation	CAC,CGC	H1236R	XP_016856551.1
XM_017001063.1	3869	Missense Mutation	CAC,CGC	H1236R	XP_016856552.1
XM_017001064.1	3869	Missense Mutation	CAC,CGC	H1236R	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	3869	UTR 3			NP_005948.3
XM_005263458.3	3869	Intron			XP_005263515.1
XM_005263460.4	3869	Intron			XP_005263517.1
XM_005263462.4	3869	Intron			XP_005263519.1
XM_005263463.3	3869	Intron			XP_005263520.1
XM_011541495.2	3869	Intron			XP_011539797.1
XM_011541496.2	3869	Intron			XP_011539798.1
XM_017001328.1	3869	Intron			XP_016856817.1

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