Product Details

SNP ID

rs1976616

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219539659 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CCGCCAGGCGCCCACGGGCTGCCAC[A/G]TAGTCGGAGTTGTAGAAGCAGGCCT

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182847.2	1810	Intron			NP_878267.2
XM_005246671.2	1810	Intron			XP_005246728.2
XM_017004439.1	1810	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	1810	Silent Mutation	TAC,TAT	Y522Y	NP_001182660.1
NM_024536.5	1810	Silent Mutation	TAC,TAT	Y684Y	NP_078812.2
XM_011511838.2	1810	Silent Mutation	TAC,TAT	Y393Y	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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