Product Details

SNP ID

rs138314044

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219539457 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTCGGGAGCCGAGGCCCTCAAGCA[C/T]GCTCTGGAGGCAGCGGTGGTACAGG

Phenotype

MIM: 606715 MIM: 610405 MIM: 610991

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

ASIC4 PubMed Links

Gene Details

Gene

ASIC4

Gene Name

acid sensing ion channel subunit family member 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182847.2	2012	Intron			NP_878267.2
XM_005246671.2	2012	Intron			XP_005246728.2
XM_017004439.1	2012	Intron			XP_016859928.1

Gene

CHPF

Gene Name

chondroitin polymerizing factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001195731.1	2012	Missense Mutation	ATG,GTG	M590V	NP_001182660.1
NM_024536.5	2012	Missense Mutation	ATG,GTG	M752V	NP_078812.2
XM_011511838.2	2012	Missense Mutation	ATG,GTG	M461V	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

There are no transcripts associated with this gene.

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