Product Details

SNP ID

rs41279880

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:24983100 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTGCCTGGATCAACAGAGTCACCA[A/G]ACAAAAGGAGACTGGGTCCCTGAGT

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	2261	UTR 3			NP_001257312.1
NM_145010.3	2261	UTR 3			NP_659447.1
XM_006717389.1	2261	Intron			XP_006717452.1
XM_006717390.1	2261	Intron			XP_006717453.1
XM_011519348.1	2261	Intron			XP_011517650.1
XM_017015830.1	2261	UTR 3			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	2261	Intron			NP_079114.3
XM_005252597.2	2261	Intron			XP_005252654.1
XM_017016665.1	2261	Intron			XP_016872154.1

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