Product Details

SNP ID

rs201084315

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219547557 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTCTCACTGGGTTGCTGTTTGGCT[C/T]GGTGGTCATCTTCCTCCTCTGCTAC

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

There are no transcripts associated with this gene.

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

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	629	Missense Mutation	TCG,TTG	S73L	NP_001005209.1
NM_001303098.1	629	Missense Mutation	TCG,TTG	S73L	NP_001290027.1
XM_017003367.1	629	Missense Mutation	TCG,TTG	S73L	XP_016858856.1

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