Product Details

SNP ID

rs2307083

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:50086770 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGTTCCTAAGATTCGTGAACTGGT[A/G]CCAGAATCCCAGGCCTATATGGATC

Phenotype

MIM: 602866 MIM: 601735

Polymorphism

A/G, Transition 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	593	Silent Mutation	GTA,GTG	V141V	NP_003067.3
NM_139071.2	593	Silent Mutation	GTA,GTG	V141V	NP_620710.2
XM_005269107.3	593	Silent Mutation	GTA,GTG	V141V	XP_005269164.2
XM_011538695.1	593	Silent Mutation	GTA,GTG	V141V	XP_011536997.1

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