Product Details

SNP ID

rs148020933

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.16:11350752 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAATCCCATCCATGAAAGTATGTGG[A/G]AACTGGAGGTAGAAGATTTACACAG

Phenotype

MIM: 612426

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LOC105371083 PubMed Links

Gene Details

Gene

LOC105371083

Gene Name

uncharacterized LOC105371083

There are no transcripts associated with this gene.

Gene

RMI2

Gene Name

RecQ mediated genome instability 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_152308.2	440	Missense Mutation	AAA,GAA	K136E	NP_689521.1

View Full Product Details