Product Details

SNP ID
rs113616914
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219544830 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGAACAGCCCCTGGAGCGCAGGTAC[A/C]AGGCACTGCCGGCCCTCGTCTGCAT
Phenotype
MIM: 606715 MIM: 610405 MIM: 610991
Polymorphism
A/C, Transversion substitution
Allele Nomenclature
Literature Links
ASIC4 PubMed Links

Gene Details

Gene
ASIC4
Gene Name
acid sensing ion channel subunit family member 4
There are no transcripts associated with this gene.

Gene
CHPF
Gene Name
chondroitin polymerizing factor
There are no transcripts associated with this gene.

Gene
MIR3132
Gene Name
microRNA 3132
There are no transcripts associated with this gene.

Gene
OBSL1
Gene Name
obscurin like 1
There are no transcripts associated with this gene.

Gene
TMEM198
Gene Name
transmembrane protein 198
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005209.2 514 Missense Mutation AAG,CAG K35Q NP_001005209.1
NM_001303098.1 514 Missense Mutation AAG,CAG K35Q NP_001290027.1
XM_017003367.1 514 Missense Mutation AAG,CAG K35Q XP_016858856.1

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