Product Details

SNP ID

rs199684007

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5130404 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGAGAATGCAGATAGTTTGCAGGCA[C/T]AGGAGCGGAAGGACATACTTATGAA

Phenotype

MIM: 604334 MIM: 616463

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

USP6 PubMed Links

Gene Details

Gene

USP6

Gene Name

ubiquitin specific peptidase 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304284.1	2485	Nonsense Mutation	CAG,TAG	Q13*	NP_001291213.1
NM_004505.3	2485	Intron			NP_004496.2
XM_011524050.1	2485	Nonsense Mutation	CAG,TAG	Q13*	XP_011522352.1
XM_011524051.2	2485	Nonsense Mutation	CAG,TAG	Q13*	XP_011522353.1
XM_011524052.2	2485	Intron			XP_011522354.1
XM_011524053.2	2485	Intron			XP_011522355.1
XM_011524054.2	2485	Nonsense Mutation	CAG,TAG	Q13*	XP_011522356.1
XM_011524055.2	2485	Nonsense Mutation	CAG,TAG	Q13*	XP_011522357.1
XM_011524056.2	2485	Intron			XP_011522358.1
XM_011524057.2	2485	Nonsense Mutation	CAG,TAG	Q13*	XP_011522359.1
XM_011524058.2	2485	Nonsense Mutation	CAG,TAG	Q13*	XP_011522360.1
XM_011524059.2	2485	Nonsense Mutation	CAG,TAG	Q13*	XP_011522361.1
XM_017025290.1	2485	Nonsense Mutation	CAG,TAG	Q13*	XP_016880779.1

Gene

ZNF232

Gene Name

zinc finger protein 232

There are no transcripts associated with this gene.

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