Product Details

SNP ID

rs200773323

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:24984824 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTTCTTCTTCCAGCCTCTGCTTGC[A/G]GATCTTCTTTGGTATAGAATCTATA

Phenotype

MIM: 611025 MIM: 611260

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ENKUR PubMed Links

Gene Details

Gene

ENKUR

Gene Name

enkurin, TRPC channel interacting protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001270383.1	715	Missense Mutation	CGC,TGC	R164C	NP_001257312.1
NM_145010.3	715	Missense Mutation	CGC,TGC	R226C	NP_659447.1
XM_006717389.1	715	Missense Mutation	CGC,TGC	R226C	XP_006717452.1
XM_006717390.1	715	Missense Mutation	CGC,TGC	R130C	XP_006717453.1
XM_011519348.1	715	Missense Mutation	CGC,TGC	R226C	XP_011517650.1
XM_017015830.1	715	Missense Mutation	CGC,TGC	R130C	XP_016871319.1

Gene

THNSL1

Gene Name

threonine synthase like 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024838.4	715	Intron			NP_079114.3
XM_005252597.2	715	Intron			XP_005252654.1
XM_017016665.1	715	Intron			XP_016872154.1

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