Product Details

SNP ID

rs201615360

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:38760564 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTTGTGGTCAGTGGCACCTGCGCC[A/G]AACAAATGTACGGAATGTGTGAGTC

Phenotype

MIM: 603261 MIM: 602176

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOC100287808 PubMed Links

Gene Details

Gene

LOC100287808

Gene Name

uncharacterized LOC100287808

There are no transcripts associated with this gene.

Gene

PIP4K2B

Gene Name

phosphatidylinositol-5-phosphate 4-kinase type 2 beta

There are no transcripts associated with this gene.

Gene

PSMB3

Gene Name

proteasome subunit beta 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002795.3	544	Missense Mutation	AAA,GAA	K144E	NP_002786.2

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