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SNP ID

rs200285513

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219514827 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAGAGCCTCCTCGGGGCTGTTGCC[C/G]CTGGAGCAGCCCCCCGAGACCTGGC

Phenotype

MIM: 606715 MIM: 615495

Polymorphism

C/G, Transversion 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	658	Missense Mutation	CCT,GCT	P162A	NP_878267.2
XM_005246671.2	658	Missense Mutation	CCT,GCT	P162A	XP_005246728.2
XM_017004439.1	658	Intron			XP_016859928.1

Gene

GMPPA

Gene Name

GDP-mannose pyrophosphorylase A

There are no transcripts associated with this gene.

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