Product Details

SNP ID

rs144007748

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.2:219514751 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCGATCGAGATTGTGTGCAAAAT[C/T]AAATTTGCTGAGGAGGATGCGAAAC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_182847.2	582	Silent Mutation	ATC,ATT	I136I	NP_878267.2
XM_005246671.2	582	Silent Mutation	ATC,ATT	I136I	XP_005246728.2
XM_017004439.1	582	Intron			XP_016859928.1

Gene

GMPPA

Gene Name

GDP-mannose pyrophosphorylase A

There are no transcripts associated with this gene.

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