Product Details

SNP ID

rs146698189

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:61160000 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCAATGTTTTCTTGGCGTTTTTGCT[G/T]CTTCTTTTGCTCCTTCTCCCTGGCC

Phenotype

MIM: 609653

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

CTC-436P18.1 PubMed Links

Gene Details

Gene

CTC-436P18.1

Gene Name

uncharacterized LOC101928630

There are no transcripts associated with this gene.

Gene

NDUFAF2

Gene Name

NADH:ubiquinone oxidoreductase complex assembly factor 2

There are no transcripts associated with this gene.

Gene

SMIM15

Gene Name

small integral membrane protein 15

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001048249.3	599	Missense Mutation	AAG,CAG	K58Q	NP_001041714.1

View Full Product Details