Product Details

SNP ID

rs1127325

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219551532 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCCCAGTTGGCTTTACTCACCCT[C/T]TACCAGCAGCCGTGTGTGGGTGCTG

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	5994	Intron			NP_001166879.1
NM_001173431.1	5994	Intron			NP_001166902.1
NM_015311.2	5994	Missense Mutation	AAG,GAG	K1894E	NP_056126.1
XM_005246424.4	5994	Missense Mutation	AAG,GAG	K1802E	XP_005246481.1
XM_005246427.4	5994	Intron			XP_005246484.1
XM_011510857.2	5994	Missense Mutation	AAG,GAG	K1894E	XP_011509159.1
XM_011510863.2	5994	Intron			XP_011509165.1
XM_011510864.2	5994	Intron			XP_011509166.1
XM_011510865.2	5994	Intron			XP_011509167.1
XM_011510866.2	5994	Intron			XP_011509168.1
XM_017003696.1	5994	Missense Mutation	AAG,GAG	K1894E	XP_016859185.1
XM_017003697.1	5994	Missense Mutation	AAG,GAG	K1894E	XP_016859186.1
XM_017003698.1	5994	Missense Mutation	AAG,GAG	K1802E	XP_016859187.1
XM_017003699.1	5994	Missense Mutation	AAG,GAG	K1802E	XP_016859188.1
XM_017003700.1	5994	Missense Mutation	AAG,GAG	K1710E	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	5994	Intron			NP_001005209.1
NM_001303098.1	5994	Intron			NP_001290027.1
XM_017003367.1	5994	Intron			XP_016858856.1

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