Product Details

SNP ID

rs200439481

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.Y:12725204 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAATTCTTATGGATGAGGCTGTGAG[G/T]GGCTGGAAGTTTGAAATTCATGTGA

Phenotype

MIM: 400005

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

USP9Y PubMed Links

Gene Details

Gene

USP9Y

Gene Name

ubiquitin specific peptidase 9, Y-linked

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004654.3	1362	Missense Mutation	AGG,AGT	R139S	NP_004645.2
XM_017030078.1	1362	Missense Mutation	AGG,AGT	R139S	XP_016885567.1

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