Product Details

SNP ID

rs201362659

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:33923245 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCCTGCGATGATCCAGCATAGCCA[A/C]CTTTGGAGTAGTCTCCTGCTGCTGT

Phenotype

MIM: 612506

Polymorphism

A/C, Transversion 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	3058	Missense Mutation	GGT,GTT	G715V	NP_001269458.1
NM_001282530.1	3058	Missense Mutation	GGT,GTT	G221V	NP_001269459.1
NM_018449.3	3058	Missense Mutation	GGT,GTT	G982V	NP_060919.3

Gene

UBE2R2

Gene Name

ubiquitin conjugating enzyme E2 R2

There are no transcripts associated with this gene.

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