Product Details

SNP ID

rs141629916

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:23392458 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGATCGCATCACAGTAGGTCTGCA[C/T]TGTGGCTCTGGCGATCGAGCCCAGC

Phenotype

MIM: 606978

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

COG7 PubMed Links

Gene Details

Gene

COG7

Gene Name

component of oligomeric golgi complex 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153603.3	2265	Missense Mutation	ATG,GTG	M690V	NP_705831.1
XM_017023870.1	2265	Missense Mutation	ATG,GTG	M625V	XP_016879359.1

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