Product Details

SNP ID

rs116467365

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:228153177 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACAGTGCCCACCTCAGCTTGTCC[C/T]GCCTCTCTATCATGGTCCTTTCTTT

Phenotype

MIM: 608803 MIM: 139270

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

GJC2 PubMed Links

Gene Details

Gene

GJC2

Gene Name

gap junction protein gamma 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020435.3		Intron			NP_065168.2

Gene

GUK1

Gene Name

guanylate kinase 1

There are no transcripts associated with this gene.

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