Product Details

SNP ID
rs61748139
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:96549364 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGGGAGCGGGAGGAGGAGCAGGAGC[G/T]GGAGGAGGAGCAGGCCTTCCTGGTC
Phenotype
MIM: 611583
Polymorphism
G/T, Transversion 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_001319085.1 272 Missense Mutation CGG,CTG R55L NP_001306014.1
NM_001319087.1 272 Missense Mutation CGG,CTG R55L NP_001306016.1
NM_001319092.1 272 UTR 5 NP_001306021.1
NM_001319093.1 272 Intron NP_001306022.1
NM_001319094.1 272 UTR 5 NP_001306023.1
NM_001319096.1 272 Intron NP_001306025.1
NM_212481.2 272 Missense Mutation CGG,CTG R55L NP_997646.1
XM_011510499.2 272 Missense Mutation CGG,CTG R65L XP_011508801.1
XM_017003183.1 272 Missense Mutation CGG,CTG R65L XP_016858672.1
XM_017003184.1 272 Intron XP_016858673.1
XM_017003185.1 272 Intron XP_016858674.1

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