Product Details

SNP ID

rs147171402

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5183253 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCTGATGTTTAAGAAAAGCTGTG[C/T]GCCCACTGAAGGTCTTCCCACATCT

Phenotype

MIM: 604334

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC100130950 PubMed Links

Gene Details

Gene

LOC100130950

Gene Name

uncharacterized LOC100130950

There are no transcripts associated with this gene.

Gene

USP6

Gene Name

ubiquitin specific peptidase 6

There are no transcripts associated with this gene.

Gene

ZNF594

Gene Name

zinc finger protein 594

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_032530.1	1473	Missense Mutation	CAC,CGC	H335R	NP_115919.1
XM_005256827.2	1473	Missense Mutation	CAC,CGC	H335R	XP_005256884.1

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