Product Details

SNP ID

rs11549475

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:48383321 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCGGCAAACTCAACTTCTTCCCC[C/T]TTAGGACTGTGAGGAGAGAAAACAG

Phenotype

MIM: 131235 MIM: 608373

Polymorphism

C/T, 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	806	Missense Mutation	AAG,AGG	K204R	NP_006792.1

Gene

SYNGR4

Gene Name

synaptogyrin 4

There are no transcripts associated with this gene.

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