Product Details

SNP ID

rs2447196

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:43601620 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGGGAGTCATACTGCTGGGTTTTAA[A/G]TCTTGCCTCTGCCCTTAGCTGTATA

Phenotype

MIM: 123290 MIM: 606440

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

CKMT1B PubMed Links

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		Intron			NP_714544.1
XM_011521278.2		Intron			XP_011519580.1
XM_017021954.1		Intron			XP_016877443.1
XM_017021955.1		Intron			XP_016877444.1
XM_017021956.1		Intron			XP_016877445.1
XM_017021957.1		Intron			XP_016877446.1
XM_017021958.1		Intron			XP_016877447.1
XM_017021959.1		Intron			XP_016877448.1
XM_017021960.1		Intron			XP_016877449.1
XM_017021961.1		Intron			XP_016877450.1
XM_017021962.1		Intron			XP_016877451.1

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