Product Details

SNP ID
rs148074605
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:108552235 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATGAGAAATGGAACAGATTCTTACC[C/T]TAATGCTCAACTCTTTTCTTATCTG
Phenotype
MIM: 610643 MIM: 609929
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
KIAA1524 PubMed Links

Gene Details

Gene
KIAA1524
Gene Name
KIAA1524
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_020890.2 2599 Missense Mutation AAG,AGG K849R NP_065941.2
XM_006713716.3 2599 Missense Mutation AAG,AGG K848R XP_006713779.1
XM_006713717.2 2599 Missense Mutation AAG,AGG K690R XP_006713780.1
XM_011513056.1 2599 Missense Mutation AAG,AGG K690R XP_011511358.1
XM_011513057.2 2599 Missense Mutation AAG,AGG K535R XP_011511359.1
Gene
MYH15
Gene Name
myosin heavy chain 15
There are no transcripts associated with this gene.

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