Product Details

SNP ID

rs199859255

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:33922700 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACTGTACTCACCTGTGCATCCTGC[A/G]GAAGGTGGTGGTGCAGCAGCTGTGA

Phenotype

MIM: 612506

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

UBAP2 PubMed Links

Gene Details

Gene

UBAP2

Gene Name

ubiquitin associated protein 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001282529.1	3364	Missense Mutation	CCG,CTG	P817L	NP_001269458.1
NM_001282530.1	3364	Missense Mutation	CCG,CTG	P323L	NP_001269459.1
NM_018449.3	3364	Missense Mutation	CCG,CTG	P1084L	NP_060919.3

Gene

UBE2R2

Gene Name

ubiquitin conjugating enzyme E2 R2

There are no transcripts associated with this gene.

View Full Product Details