Product Details

SNP ID
rs146255966
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.15:43603258 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCCCTAACCTGTTTTGCTTTGCCC[A/G]TGGCTGCCCGCAGTTCCTCAGGCCC
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 2664 Missense Mutation ACG,ATG T1510M NP_714544.1
XM_011521278.2 2664 Intron XP_011519580.1
XM_017021954.1 2664 Intron XP_016877443.1
XM_017021955.1 2664 Intron XP_016877444.1
XM_017021956.1 2664 Intron XP_016877445.1
XM_017021957.1 2664 Intron XP_016877446.1
XM_017021958.1 2664 Intron XP_016877447.1
XM_017021959.1 2664 Intron XP_016877448.1
XM_017021960.1 2664 Intron XP_016877449.1
XM_017021961.1 2664 Intron XP_016877450.1
XM_017021962.1 2664 Missense Mutation ACG,ATG T885M XP_016877451.1

View Full Product Details