Product Details

SNP ID

rs147128480

Assay Type

Functionally Tested

NCBI dbSNP Submissions

4

Location

Chr.1:34794596 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACCCACAGGTGGAGCGGGCGCTGG[C/T]GGCCGTAGAGCGTCAGATGGCCAAG

Phenotype

MIM: 121012 MIM: 603324

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

GJA4 PubMed Links

Additional Information

For this assay, SNP(s) [rs41266431] are located under a probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

GJA4

Gene Name

gap junction protein alpha 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002060.2	640	Missense Mutation	GCG,GTG	A128V	NP_002051.2
XM_005270750.2	640	Missense Mutation	GCG,GTG	A128V	XP_005270807.1
XM_017001043.1	640	Missense Mutation	GCG,GTG	A128V	XP_016856532.1

Gene

GJB3

Gene Name

gap junction protein beta 3

There are no transcripts associated with this gene.

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