Product Details

SNP ID

rs201417018

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:50086199 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCAGGCAGCCGAATGACACCTCA[C/G]GGACCTTCCATGGGACCCCCTGGCT

Phenotype

MIM: 602866 MIM: 601735

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

ASIC1 PubMed Links

Gene Details

Gene

ASIC1

Gene Name

acid sensing ion channel subunit 1

There are no transcripts associated with this gene.

Gene

SMARCD1

Gene Name

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003076.4	386	Missense Mutation	CAC,CAG	H72Q	NP_003067.3
NM_139071.2	386	Missense Mutation	CAC,CAG	H72Q	NP_620710.2
XM_005269107.3	386	Missense Mutation	CAC,CAG	H72Q	XP_005269164.2
XM_011538695.1	386	Missense Mutation	CAC,CAG	H72Q	XP_011536997.1

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