Product Details

SNP ID

rs116125089

Assay Type

Functionally tested

NCBI dbSNP Submissions

15

Location

Chr.1:228167265 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTAGAACCAGAGTTGGTGAAATAC[A/G]GCCCTGAGGTCAGACCCAGCCCATT

Phenotype

MIM: 608803 MIM: 615316

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

GJC2 PubMed Links

Gene Details

Gene

GJC2

Gene Name

gap junction protein gamma 2

There are no transcripts associated with this gene.

Gene

IBA57

Gene Name

IBA57 homolog, iron-sulfur cluster assembly

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010867.3		Intron			NP_001010867.1
NM_001310327.1		Intron			NP_001297256.1

Gene

IBA57-AS1

Gene Name

IBA57 antisense RNA 1 (head to head)

There are no transcripts associated with this gene.

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