Product Details

SNP ID

rs150432230

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:147758513 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAAGCTGGCACTTAGCCATGTGCTG[C/T]CGCGGTTTGACAAATCGCTGTCTGA

Phenotype

MIM: 121013

Polymorphism

C/T, Transition 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	2909	Silent Mutation	CGA,CGG	R242R	NP_005257.2
NM_181703.3	2909	Silent Mutation	CGA,CGG	R242R	NP_859054.1
XM_005272951.4	2909	Silent Mutation	CGA,CGG	R242R	XP_005273008.1
XM_017001044.1	2909	Silent Mutation	CGA,CGG	R242R	XP_016856533.1

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