Product Details

SNP ID

rs78252771

Assay Type

Functionally tested

NCBI dbSNP Submissions

6

Location

Chr.1:147756610 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTTTAGGTTAATAACTGCCAGGCA[C/G]CCGGAGAGGAGAGCAGGAAGACACA

Phenotype

MIM: 121013

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

GJA5 PubMed Links

Gene Details

Gene

GJA5

Gene Name

gap junction protein alpha 5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005266.6	4812	UTR 3			NP_005257.2
NM_181703.3	4812	UTR 3			NP_859054.1
XM_005272951.4	4812	UTR 3			XP_005273008.1
XM_017001044.1	4812	UTR 3			XP_016856533.1

View Full Product Details