Product Details

SNP ID
rs4672934
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:219552245 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGTGAGGGGGTCGCTAGCGAGGC[C/T]GGAGCCACCTCTGAGGAGCGTTGGG
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 Intron NP_001166879.1
NM_001173431.1 Intron NP_001166902.1
NM_015311.2 Intron NP_056126.1
XM_005246424.4 Intron XP_005246481.1
XM_005246427.4 Intron XP_005246484.1
XM_011510857.2 Intron XP_011509159.1
XM_011510863.2 Intron XP_011509165.1
XM_011510864.2 Intron XP_011509166.1
XM_011510865.2 Intron XP_011509167.1
XM_011510866.2 Intron XP_011509168.1
XM_017003696.1 Intron XP_016859185.1
XM_017003697.1 Intron XP_016859186.1
XM_017003698.1 Intron XP_016859187.1
XM_017003699.1 Intron XP_016859188.1
XM_017003700.1 Intron XP_016859189.1
Gene
TMEM198
Gene Name
transmembrane protein 198
There are no transcripts associated with this gene.

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