Product Details

SNP ID

rs147832114

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219504176 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCTCCTGAAGCCTTGAAGCCTCTT[C/T]GGGATGTCTTCCAGCGTAATCAGCA

Phenotype

MIM: 606715 MIM: 615495

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

GMPPA

Gene Name

GDP-mannose pyrophosphorylase A

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013335.3	606	Missense Mutation	CGG,TGG	R195W	NP_037467.2
NM_205847.2	606	Missense Mutation	CGG,TGG	R195W	NP_995319.1
XM_005246483.3	606	Missense Mutation	CGG,TGG	R195W	XP_005246540.1
XM_005246486.3	606	Missense Mutation	CGG,TGG	R195W	XP_005246543.1
XM_011511032.2	606	Missense Mutation	CGG,TGG	R195W	XP_011509334.1
XM_017003906.1	606	Missense Mutation	CGG,TGG	R195W	XP_016859395.1
XM_017003907.1	606	Missense Mutation	CGG,TGG	R195W	XP_016859396.1
XM_017003908.1	606	Missense Mutation	CGG,TGG	R195W	XP_016859397.1
XM_017003909.1	606	Missense Mutation	CGG,TGG	R195W	XP_016859398.1
XM_017003910.1	606	Missense Mutation	CGG,TGG	R195W	XP_016859399.1
XM_017003911.1	606	Missense Mutation	CGG,TGG	R195W	XP_016859400.1
XM_017003912.1	606	Missense Mutation	CGG,TGG	R195W	XP_016859401.1
XM_017003913.1	606	Missense Mutation	CGG,TGG	R195W	XP_016859402.1
XM_017003914.1	606	Missense Mutation	CGG,TGG	R70W	XP_016859403.1
XM_017003915.1	606	Missense Mutation	CGG,TGG	R70W	XP_016859404.1
XM_017003916.1	606	Missense Mutation	CGG,TGG	R70W	XP_016859405.1
XM_017003917.1	606	Missense Mutation	CGG,TGG	R70W	XP_016859406.1

Gene

LOC100996693

Gene Name

CAVP-target protein-like

There are no transcripts associated with this gene.

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