Product Details

SNP ID

rs200450712

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.20:35547414 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTCTGCTTCTCCCCTCCCCTTAGAG[C/G]TTGGGAAAGTCGAGGTGACGGTGTT

Phenotype

MIM: 616971

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ERGIC3 PubMed Links

Gene Details

Gene

ERGIC3

Gene Name

ERGIC and golgi 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015966.2	439	Missense Mutation	CTT,GTT	L124V	NP_057050.1
NM_198398.1	439	Missense Mutation	CTT,GTT	L124V	NP_938408.1

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