Product Details

SNP ID

rs199644030

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:81645265 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCATCGGGCTCTGGGGCCTGGCT[A/G]TCAAGGGGTCTCTGGGAAGTGATCT

Phenotype

MIM: 606590 MIM: 180073

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

NPLOC4 PubMed Links

Gene Details

Gene

NPLOC4

Gene Name

NPL4 homolog, ubiquitin recognition factor

There are no transcripts associated with this gene.

Gene

PDE6G

Gene Name

phosphodiesterase 6G

There are no transcripts associated with this gene.

Gene

TSPAN10

Gene Name

tetraspanin 10

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001290212.1	652	Missense Mutation	ATC,GTC	I142V	NP_001277141.1
NM_031945.4	652	Missense Mutation	ATC,GTC	I104V	NP_114151.3

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