Product Details

SNP ID

rs9420

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.11:57742822 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TCTTCCTCAGTCCTTAAGATTGCCC[A/G]GATCCTTTCTCTAACCTTATTTCCC

Phenotype

MIM: 607914 MIM: 616715

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

BTBD18 PubMed Links

Additional Information

For this assay, SNP(s) [rs12271969] 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

BTBD18

Gene Name

BTB domain containing 18

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001145101.1		Intron			NP_001138573.1
XM_011545212.2		Intron			XP_011543514.1
XM_017018127.1		Intron			XP_016873616.1
XM_017018128.1		Intron			XP_016873617.1

Gene

C11orf31

Gene Name

chromosome 11 open reading frame 31

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001321335.1		Intron			NP_001308264.1
NM_170746.3		Intron			NP_734467.1

Gene

TMX2

Gene Name

thioredoxin related transmembrane protein 2

There are no transcripts associated with this gene.

Gene

TMX2-CTNND1

Gene Name

TMX2-CTNND1 readthrough (NMD candidate)

There are no transcripts associated with this gene.

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