Product Details

SNP ID

rs148341129

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:6466167 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTCAAAGAAGCCCTCAAAGTAGA[A/C]GCGCCAGATCCAGTTGACAAGATAC

Phenotype

MIM: 609024

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

KDELR2 PubMed Links

Gene Details

Gene

KDELR2

Gene Name

KDEL endoplasmic reticulum protein retention receptor 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001100603.1	669	Intron			NP_001094073.1
NM_006854.3	669	Missense Mutation	GTC,TTC	V170F	NP_006845.1

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