Product Details

SNP ID

rs145285600

Assay Type

Functionally Tested

NCBI dbSNP Submissions

10

Location

Chr.1:34761508 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGGCCCTACAGCTCATCCTGGTCA[C/T]GTGCCCCTCACTGCTCGTGGTCATG

Phenotype

MIM: 605425 MIM: 604493

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

GJB4 PubMed Links

Additional Information

For this assay, SNP(s) [rs76188300] 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

GJB4

Gene Name

gap junction protein beta 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153212.2	912	Missense Mutation	ACG,ATG	T85M	NP_694944.1
XM_011540679.2	912	Missense Mutation	ACG,ATG	T85M	XP_011538981.1

Gene

GJB5

Gene Name

gap junction protein beta 5

There are no transcripts associated with this gene.

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