Product Details

SNP ID

rs74612119

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:119300352 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GATACTCACCATGGCAAAAAATACA[A/C]AAAGAGAAACACCACCACATCGAAA

Phenotype

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

C4orf3 PubMed Links

Gene Details

Gene

C4orf3

Gene Name

chromosome 4 open reading frame 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001001701.3	583	Missense Mutation	GTG,TTG	V62L	NP_001001701.2
NM_001170330.1	583	Missense Mutation	GTG,TTG	V195L	NP_001163801.1

Gene

USP53

Gene Name

ubiquitin specific peptidase 53

There are no transcripts associated with this gene.

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