Product Details

SNP ID

rs56752018

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:44804072 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGAACTTGCTTTCCAAGACTAAAAA[C/G]TGGTATCTCCTCTTCAGTCTCCTTA

Phenotype

MIM: 608655

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GJC1 PubMed Links

Gene Details

Gene

GJC1

Gene Name

gap junction protein gamma 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001080383.1	2014	UTR 3			NP_001073852.1
NM_005497.3	2014	UTR 3			NP_005488.2
XM_005256920.1	2014	UTR 3			XP_005256977.1
XM_005256921.1	2014	UTR 3			XP_005256978.1

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