Product Details

SNP ID

rs74349194

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:5183423 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGATGTGGGACAAGGTGTGAACT[C/T]TGACTGAACATCTGTCCACAGTCAT

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	1303	Silent Mutation	CAA,CAG	Q278Q	NP_115919.1
XM_005256827.2	1303	Silent Mutation	CAA,CAG	Q278Q	XP_005256884.1

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