Product Details

SNP ID

rs117156037

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48384252 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACCTTTGGTGATATAGAGGTAGAA[A/G]AAATCGCAGTAGAGGACTGTCTGGA

Phenotype

MIM: 131235 MIM: 608373

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KDELR1 PubMed Links

Gene Details

Gene

KDELR1

Gene Name

KDEL endoplasmic reticulum protein retention receptor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_006801.2	777	Silent Mutation	TTC,TTT	F194F	NP_006792.1

Gene

SYNGR4

Gene Name

synaptogyrin 4

There are no transcripts associated with this gene.

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