Product Details

SNP ID

rs146183345

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:228157933 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGGCCAAGTTCACTTGCAACACG[A/C]GGCAGCCAGGCTGCGACAACGTCTG

Phenotype

MIM: 608803 MIM: 139270 MIM: 615316

Polymorphism

A/C, Transversion 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	488	Silent Mutation	AGG,CGG	R59R	NP_065168.2

Gene

GUK1

Gene Name

guanylate kinase 1

There are no transcripts associated with this gene.

Gene

IBA57

Gene Name

IBA57 homolog, iron-sulfur cluster assembly

There are no transcripts associated with this gene.

Gene

IBA57-AS1

Gene Name

IBA57 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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