Product Details

SNP ID

rs138274627

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:33922713 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGCATCCTGCGGAAGGTGGTGGT[A/G]CAGCAGCTGTGAGTGGGGCTGCTGG

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	3351	Missense Mutation	CAC,TAC	H813Y	NP_001269458.1
NM_001282530.1	3351	Missense Mutation	CAC,TAC	H319Y	NP_001269459.1
NM_018449.3	3351	Missense Mutation	CAC,TAC	H1080Y	NP_060919.3

Gene

UBE2R2

Gene Name

ubiquitin conjugating enzyme E2 R2

There are no transcripts associated with this gene.

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