Product Details

SNP ID

rs6115976

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:435556 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAACAGCCAGATGAAGATACACACA[A/G]GGTGAGGTCTGGACGGGTCCTGGGC

Phenotype

MIM: 610924 MIM: 611663

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

RBCK1 PubMed Links

Additional Information

For this assay, SNP(s) [rs375424312] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

Gene Details

Gene

RBCK1

Gene Name

RANBP2-type and C3HC4-type zinc finger containing 1

There are no transcripts associated with this gene.

Gene

TBC1D20

Gene Name

TBC1 domain family member 20

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144628.3	3210	UTR 3			NP_653229.1
XM_005260661.1	3210	UTR 3			XP_005260718.1
XM_006723540.3	3210	UTR 3			XP_006723603.1
XM_017027645.1	3210	UTR 3			XP_016883134.1

View Full Product Details