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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