Product Details

SNP ID

rs144131831

Assay Type

Functionally Tested

NCBI dbSNP Submissions

3

Location

Chr.1:34785044 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCCTCGCTGCTGGTCATCCTGCA[C/T]GTGGCCTACCGTGAGGAGCGGGAGC

Phenotype

MIM: 121012 MIM: 603324

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

GJA4 PubMed Links

Additional Information

For this assay, SNP(s) [rs41310442] are located under a primer 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

There are no transcripts associated with this gene.

Gene

GJB3

Gene Name

gap junction protein beta 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001005752.1	897	Silent Mutation	CAC,CAT	H94H	NP_001005752.1
NM_024009.2	897	Silent Mutation	CAC,CAT	H94H	NP_076872.1

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