Product Details

SNP ID
rs142107090
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:131579221 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TGTGGGAAAAGCAAGCGAGCAGCTG[G/T]CTGGCAAGGTGGCAGAAGTCAAGAA
Phenotype
MIM: 608313 MIM: 605042
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ARG1 PubMed Links

Gene Details

Gene
ARG1
Gene Name
arginase 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000045.3 365 Missense Mutation GCT,TCT A81S NP_000036.2
NM_001244438.1 365 Missense Mutation GCT,TCT A89S NP_001231367.1
XM_011535801.2 365 Missense Mutation GCT,TCT A81S XP_011534103.1
Gene
MED23
Gene Name
mediator complex subunit 23
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001270521.1 365 Intron NP_001257450.1
NM_001270522.1 365 Intron NP_001257451.1
NM_004830.3 365 Intron NP_004821.2
NM_015979.3 365 Intron NP_057063.2
XM_005267223.2 365 Intron XP_005267280.1
XM_006715612.2 365 Intron XP_006715675.1
XM_011536257.2 365 Intron XP_011534559.1
XM_017011501.1 365 Intron XP_016866990.1

View Full Product Details