Product Details

SNP ID

rs112011340

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:23388937 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGGGGTCAGTAATTCACACTCC[A/G]CATGGTGGCCACGGTGGTGGCCAGG

Phenotype

MIM: 606978 MIM: 600760

Polymorphism

A/G, 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	2493	Missense Mutation	CGG,TGG	R766W	NP_705831.1
XM_017023870.1	2493	Missense Mutation	CGG,TGG	R701W	XP_016879359.1

Gene

SCNN1B

Gene Name

sodium channel epithelial 1 beta subunit

There are no transcripts associated with this gene.

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