Product Details

SNP ID

rs11592

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219550252 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGCCAAGGTCCCATGGGCCACCT[C/T]CTGCATGTCTCCGCGGAGGGGCTAC

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	1892	Intron			NP_001166879.1
NM_001173431.1	1892	Intron			NP_001166902.1
NM_015311.2	1892	Intron			NP_056126.1
XM_005246424.4	1892	Intron			XP_005246481.1
XM_005246427.4	1892	Intron			XP_005246484.1
XM_011510857.2	1892	Intron			XP_011509159.1
XM_011510863.2	1892	Intron			XP_011509165.1
XM_011510864.2	1892	Intron			XP_011509166.1
XM_011510865.2	1892	Intron			XP_011509167.1
XM_011510866.2	1892	Intron			XP_011509168.1
XM_017003696.1	1892	Intron			XP_016859185.1
XM_017003697.1	1892	Intron			XP_016859186.1
XM_017003698.1	1892	Intron			XP_016859187.1
XM_017003699.1	1892	Intron			XP_016859188.1
XM_017003700.1	1892	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	1892	UTR 3			NP_001005209.1
NM_001303098.1	1892	UTR 3			NP_001290027.1
XM_017003367.1	1892	UTR 3			XP_016858856.1

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