Product Details

SNP ID

rs45572531

Assay Type

Functionally tested

NCBI dbSNP Submissions

9

Location

Chr.1:11790692 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCAGGACGCAGGGTCATGGAGCCTC[T/C]GTTTCTCTCGCATTCTGGGTGGGCC

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	3025	Intron			NP_001010881.1

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	3025	Silent Mutation	ACA,ACG	T653T	NP_005948.3
XM_005263458.3	3025	Silent Mutation	ACA,ACG	T694T	XP_005263515.1
XM_005263460.4	3025	Silent Mutation	ACA,ACG	T653T	XP_005263517.1
XM_005263462.4	3025	Silent Mutation	ACA,ACG	T653T	XP_005263519.1
XM_005263463.3	3025	Silent Mutation	ACA,ACG	T571T	XP_005263520.1
XM_011541495.2	3025	Silent Mutation	ACA,ACG	T693T	XP_011539797.1
XM_011541496.2	3025	Missense Mutation	AGA,GGA	R634G	XP_011539798.1
XM_017001328.1	3025	Silent Mutation	ACA,ACG	T644T	XP_016856817.1

View Full Product Details