Product Details

SNP ID

rs3212292

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.Y:12739604 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCTTGGGATTTTTCTCCTGGACAAC[A/T]TGATCATCTTTTTGATTGCTTTAAG

Phenotype

MIM: 400005

Polymorphism

A/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	2342	Missense Mutation	CAT,CTT	H466L	NP_004645.2
XM_017030078.1	2342	Missense Mutation	CAT,CTT	H466L	XP_016885567.1

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