Product Details

SNP ID
rs139120093
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.12:50086319 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCCTCAGCAGATCCAGCAGGTCCA[G/T]CAGCAGGCGGTCCAAAATCGAAACC
Phenotype
MIM: 602866 MIM: 601735
Polymorphism
G/T, 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_003076.4 506 Missense Mutation CAG,CAT Q112H NP_003067.3
NM_139071.2 506 Missense Mutation CAG,CAT Q112H NP_620710.2
XM_005269107.3 506 Missense Mutation CAG,CAT Q112H XP_005269164.2
XM_011538695.1 506 Missense Mutation CAG,CAT Q112H XP_011536997.1

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