Product Details

SNP ID

rs139334642

Assay Type

Functionally tested

NCBI dbSNP Submissions

3

Location

Chr.1:46310170 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTACATCAGGATCCCCTAACAACA[C/G]TGAGAGAGCAATGCGAGCAGTTGGA

Phenotype

MIM: 613844

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LRRC41 PubMed Links

Gene Details

Gene

LRRC41

Gene Name

leucine rich repeat containing 41

There are no transcripts associated with this gene.

Gene

UQCRH

Gene Name

ubiquinol-cytochrome c reductase hinge protein

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001297565.1	251	Missense Mutation	CTG,GTG	L27V	NP_001284494.1
NM_001297566.1	251	Missense Mutation	CTG,GTG	L24V	NP_001284495.1
NM_006004.3	251	Missense Mutation	CTG,GTG	L33V	NP_005995.2

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