Product Details

SNP ID

rs143188733

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219544754 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCGGGGACTGTGGCAACACTGCG[A/G]TTCCAGCTGCTGCCCCCTGAGCCAG

Phenotype

MIM: 606715 MIM: 610405 MIM: 610991

Polymorphism

A/G, Transition 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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195731.1	438	Intron			NP_001182660.1
NM_024536.5	438	Intron			NP_078812.2
XM_011511838.2	438	Intron			XP_011510140.1

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	438	Silent Mutation	CGA,CGG	R9R	NP_001005209.1
NM_001303098.1	438	Silent Mutation	CGA,CGG	R9R	NP_001290027.1
XM_017003367.1	438	Silent Mutation	CGA,CGG	R9R	XP_016858856.1

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