Product Details

SNP ID

rs14421

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:48916093 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTTTACAGTACATGGACTGGACCTG[C/T]CTGGAGCCCAGCCCAGAGCATCTCC

Phenotype

MIM: 611362

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LOC105371814 PubMed Links

Gene Details

Gene

LOC105371814

Gene Name

uncharacterized LOC105371814

There are no transcripts associated with this gene.

Gene

UBE2Z

Gene Name

ubiquitin conjugating enzyme E2 Z

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_023079.4	731	Missense Mutation	GCC,GTC	A199V	NP_075567.2

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