Product Details

SNP ID

rs148628089

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:20500995 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGAGAATGAAGAAGAGGGTGGCAC[A/G]TGTGGCAAAGCCAAAAACCAGCGCC

Phenotype

MIM: 612037

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

MUL1 PubMed Links

Gene Details

Gene

MUL1

Gene Name

mitochondrial E3 ubiquitin protein ligase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_024544.2	1594	Missense Mutation	CGT,TGT	R252C	NP_078820.2
XM_011542137.2	1594	Missense Mutation	CGT,TGT	R213C	XP_011540439.1

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