Product Details

SNP ID

rs45443494

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.20:45940831 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAGATTGAAATCCCAGTGACACCCA[C/T]AGGCCAGTCGGTGCCCAGCTCCCCC

Phenotype

MIM: 610827

Polymorphism

C/T, Transition Substitution

Allele Nomenclature

Literature Links

LOC107985388 PubMed Links

Additional Information

For this assay, SNP(s) [rs139030017] 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

LOC107985388

Gene Name

pre-mRNA-splicing factor cwc22-like

There are no transcripts associated with this gene.

Gene

PCIF1

Gene Name

PDX1 C-terminal inhibiting factor 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_022104.3	688	Missense Mutation	ACA,ATA	T137I	NP_071387.1
XM_011528980.2	688	Missense Mutation	ACA,ATA	T137I	XP_011527282.1
XM_011528981.2	688	Missense Mutation	ACA,ATA	T137I	XP_011527283.1
XM_017028013.1	688	Missense Mutation	ACA,ATA	T137I	XP_016883502.1
XM_017028014.1	688	UTR 5			XP_016883503.1

Gene

ZNF335

Gene Name

zinc finger protein 335

There are no transcripts associated with this gene.

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