Product Details

SNP ID

rs148517185

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.7:129834985 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CATCTTCGGAAAAGTCAGACATAGA[A/G]CTCTCCGATGAGCTGTCCCCGGTAC

Phenotype

MIM: 601082

Polymorphism

A/G, Transition 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	816	Silent Mutation	AGC,AGT	S98S	NP_001189427.1
NM_003344.3	816	Silent Mutation	AGC,AGT	S168S	NP_003335.1
NM_182697.2	816	Silent Mutation	AGC,AGT	S137S	NP_874356.1

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