Product Details

SNP ID

rs117300071

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:4912723 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCAGCACACCGTCAGTACCTAGA[A/G]CTCAGTATTTGTTTTTGGTTCTGTT

Phenotype

MIM: 607990

Polymorphism

A/G, Transition 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		Intron			NP_001073992.1
XM_005259616.2		Intron			XP_005259673.1
XM_011528181.2		Intron			XP_011526483.1
XM_017027144.1		Intron			XP_016882633.1
XM_017027145.1		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		Intron			NP_001041666.1
NM_001290050.1		Intron			NP_001276979.1
NM_001290051.1		Intron			NP_001276980.1
NM_001290052.1		Intron			NP_001276981.1
NM_013282.4		Intron			NP_037414.3
XM_011527942.2		Intron			XP_011526244.1

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