Product Details

SNP ID

rs149477068

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:6463144 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGGTGATGGTCTTTGGCACTTA[C/T]GCTGGCAAACTGAGCTTCTTTCCCT

Phenotype

MIM: 609024

Polymorphism

C/T, Transition 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	544	Missense Mutation	CAT,CGT	H128R	NP_001094073.1
NM_006854.3	544	Silent Mutation	GCA,GCG	A212A	NP_006845.1

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