Product Details

SNP ID

rs12075149

Assay Type

Functionally tested

NCBI dbSNP Submissions

4

Location

Chr.1:228158028 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCCAGATTGTGGTCATCTCCACGCC[C/T]TCGGTCATGTACCTGGGCTACGCCG

Phenotype

MIM: 608803 MIM: 139270 MIM: 615316

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	583	Silent Mutation	CCC,CCT	P90P	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.

View Full Product Details