Product Details

SNP ID

rs140789422

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.19:54162764 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TACATTTCCTGGCCCAGGACAGTCT[C/T]CCAGCACTGAAGAAGGAAGAAATAT

Phenotype

MIM: 604910

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

CNOT3 PubMed Links

Additional Information

For this assay, SNP(s) [rs9636146] 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

CNOT3

Gene Name

CCR4-NOT transcription complex subunit 3

There are no transcripts associated with this gene.

Gene

LENG1

Gene Name

leukocyte receptor cluster member 1

There are no transcripts associated with this gene.

Gene

TMC4

Gene Name

transmembrane channel like 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145303.2	1047	Missense Mutation	AAG,GAG	K477E	NP_001138775.2
NM_144686.3	1047	Missense Mutation	AAG,GAG	K471E	NP_653287.2
XM_011526486.2	1047	Missense Mutation	AAG,GAG	K317E	XP_011524788.1

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