Product Details

SNP ID
rs61755053
Assay Type
Functionally Tested
NCBI dbSNP Submissions
23
Location
Chr.1:200027875 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GTCTTCTAATTCAGATACTGGGGAT[A/T]TACAAGAGTCTTTAAAGCACGGACT
Phenotype
MIM: 604453
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
NR5A2 PubMed Links

Gene Details

Gene
NR5A2
Gene Name
nuclear receptor subfamily 5 group A member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001276464.1 274 Intron NP_001263393.1
NM_003822.4 274 Missense Mutation ATA,TTA I10L NP_003813.1
NM_205860.2 274 Missense Mutation ATA,TTA I10L NP_995582.1
XM_005245062.3 274 Intron XP_005245119.1
XM_011509380.1 274 UTR 5 XP_011507682.1
XM_011509381.2 274 Intron XP_011507683.1
XM_011509382.1 274 UTR 5 XP_011507684.1
XM_011509384.2 274 Intron XP_011507686.1
XM_017000904.1 274 Intron XP_016856393.1

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