Product Details

SNP ID
rs200584052
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:96547413 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTCTCCTTGCAGCAGCCCCTGTC[A/G]AAGGGAACAGGAAGCAGTCCACGGA
Phenotype
MIM: 611583
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
ARID5A PubMed Links

Gene Details

Gene
ARID5A
Gene Name
AT-rich interaction domain 5A
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001319085.1 124 Missense Mutation AAA,GAA K6E NP_001306014.1
NM_001319087.1 124 Missense Mutation AAA,GAA K6E NP_001306016.1
NM_001319092.1 124 UTR 5 NP_001306021.1
NM_001319093.1 124 UTR 5 NP_001306022.1
NM_001319094.1 124 UTR 5 NP_001306023.1
NM_001319096.1 124 UTR 5 NP_001306025.1
NM_212481.2 124 Missense Mutation AAA,GAA K6E NP_997646.1
XM_011510499.2 124 Missense Mutation AAA,GAA K16E XP_011508801.1
XM_017003183.1 124 Missense Mutation AAA,GAA K16E XP_016858672.1
XM_017003184.1 124 UTR 5 XP_016858673.1
XM_017003185.1 124 UTR 5 XP_016858674.1

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