Product Details

SNP ID

hCV8771416

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:129832785 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAGGTAATTAGAACACTATTGTTT[A/T]TACAATATTGAAAAAATACAATTTT

Phenotype

MIM: 601082

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

UBE2H PubMed Links

Gene Details

Gene

UBE2H

Gene Name

ubiquitin conjugating enzyme E2 H

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001202498.1	3016	UTR 3			NP_001189427.1
NM_003344.3	3016	UTR 3			NP_003335.1
NM_182697.2	3016	UTR 3			NP_874356.1

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