Product Details

SNP ID

rs200913298

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.3:180616933 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTTTTCTTTAACATTATTTGCCA[A/G]ATGTTCTATAACATCTAATGTATTT

Phenotype

MIM: 613798

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

CCDC39 PubMed Links

Additional Information

For this assay, SNP(s) [rs11914833] are located under a probe and SNP(s) [rs116499357] 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

CCDC39

Gene Name

coiled-coil domain containing 39

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_181426.1	2414	Silent Mutation	CTG,TTG	L767L	NP_852091.1

Gene

TTC14

Gene Name

tetratricopeptide repeat domain 14

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001042601.2	2414	Intron			NP_001036066.1
NM_001288582.1	2414	Intron			NP_001275511.1
NM_133462.3	2414	Intron			NP_597719.1
XM_011512439.2	2414	Intron			XP_011510741.1
XM_017005739.1	2414	Intron			XP_016861228.1
XM_017005740.1	2414	Intron			XP_016861229.1

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