Product Details

SNP ID

rs17852945

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.7:100127631 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCCTGGAGGAGGCGGCCCGTGGCC[A/C]CATCCTGGTGGACACCGGGGGCCCC

Phenotype

MIM: 610047 MIM: 602955

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

CNPY4 PubMed Links

Additional Information

For this assay, SNP(s) [rs78225095] 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

CNPY4

Gene Name

canopy FGF signaling regulator 4

There are no transcripts associated with this gene.

Gene

LAMTOR4

Gene Name

late endosomal/lysosomal adaptor, MAPK and MTOR activator 4

There are no transcripts associated with this gene.

Gene

MBLAC1

Gene Name

metallo-beta-lactamase domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_203397.2	678	Missense Mutation	CAC,CCC	H79P	NP_981942.1
XM_005250250.3	678	Missense Mutation	CAC,CCC	H79P	XP_005250307.1

Gene

TAF6

Gene Name

TATA-box binding protein associated factor 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001190415.1	678	Intron			NP_001177344.1
NM_005641.3	678	Intron			NP_005632.1
NM_139315.2	678	Intron			NP_647476.1

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