Product Details

SNP ID

rs144293424

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43603339 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGTCCTCAAAGTCTGAGAGCTCC[A/C]TCTCTGCAATCTGGGTTGCAGACCA

Phenotype

MIM: 123290 MIM: 606440

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

CKMT1B PubMed Links

Additional Information

For this assay, SNP(s) [rs2260160,rs28495368] 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

CKMT1B

Gene Name

creatine kinase, mitochondrial 1B

There are no transcripts associated with this gene.

Gene

STRC

Gene Name

stereocilin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_153700.2	2583	Missense Mutation	AGG,ATG	R1483M	NP_714544.1
XM_011521278.2	2583	Intron			XP_011519580.1
XM_017021954.1	2583	Intron			XP_016877443.1
XM_017021955.1	2583	Intron			XP_016877444.1
XM_017021956.1	2583	Intron			XP_016877445.1
XM_017021957.1	2583	Intron			XP_016877446.1
XM_017021958.1	2583	Intron			XP_016877447.1
XM_017021959.1	2583	Intron			XP_016877448.1
XM_017021960.1	2583	Intron			XP_016877449.1
XM_017021961.1	2583	Intron			XP_016877450.1
XM_017021962.1	2583	Missense Mutation	AGG,ATG	R858M	XP_016877451.1

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