Product Details

SNP ID
rs201600396
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219549782 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTGAGCTCCTTCATGGCCTCACC[C/T]ACAGATGCGGACTATGAGTATGGGT
Phenotype
MIM: 610405 MIM: 610991
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
CHPF PubMed Links

Gene Details

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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001173408.1 1422 Intron NP_001166879.1
NM_001173431.1 1422 Intron NP_001166902.1
NM_015311.2 1422 Intron NP_056126.1
XM_005246424.4 1422 Intron XP_005246481.1
XM_005246427.4 1422 Intron XP_005246484.1
XM_011510857.2 1422 Intron XP_011509159.1
XM_011510863.2 1422 Intron XP_011509165.1
XM_011510864.2 1422 Intron XP_011509166.1
XM_011510865.2 1422 Intron XP_011509167.1
XM_011510866.2 1422 Intron XP_011509168.1
XM_017003696.1 1422 Intron XP_016859185.1
XM_017003697.1 1422 Intron XP_016859186.1
XM_017003698.1 1422 Intron XP_016859187.1
XM_017003699.1 1422 Intron XP_016859188.1
XM_017003700.1 1422 Intron XP_016859189.1
Gene
TMEM198
Gene Name
transmembrane protein 198
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001005209.2 1422 Silent Mutation CCC,CCT P337P NP_001005209.1
NM_001303098.1 1422 Silent Mutation CCC,CCT P337P NP_001290027.1
XM_017003367.1 1422 Silent Mutation CCC,CCT P337P XP_016858856.1

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