Product Details

SNP ID

rs200738230

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:886103 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACGGAGGCCCGGGAGCTCATGTACT[C/T]GGGAGCCCTGCTCTTCTTCAGCCAT

Phenotype

MIM: 612056

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GET4 PubMed Links

Gene Details

Gene

GET4

Gene Name

golgi to ER traffic protein 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015949.2	295	Missense Mutation	TCG,TTG	S68L	NP_057033.2

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