Product Details

SNP ID
rs200061440
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:4910853 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGGTGCTGGTAAAACTGATGGGG[G/T]TTTTTGCTGTCCCTCCCCTCAGCGC
Phenotype
MIM: 607990
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ARRDC5 PubMed Links

Gene Details

Gene
ARRDC5
Gene Name
arrestin domain containing 5
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080523.1 487 Intron NP_001073992.1
XM_005259616.2 487 Intron XP_005259673.1
XM_011528181.2 487 Intron XP_011526483.1
XM_017027144.1 487 Intron XP_016882633.1
XM_017027145.1 487 Intron XP_016882634.1
Gene
UHRF1
Gene Name
ubiquitin like with PHD and ring finger domains 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001048201.2 487 Intron NP_001041666.1
NM_001290050.1 487 Intron NP_001276979.1
NM_001290051.1 487 Intron NP_001276980.1
NM_001290052.1 487 Intron NP_001276981.1
NM_013282.4 487 Missense Mutation GTT,TTT V3F NP_037414.3
XM_011527942.2 487 Intron XP_011526244.1

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