Product Details

SNP ID

rs141917217

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.2:218401665 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGATGATGGGGAGGCCCTGCCTGCT[C/G]ACAGCGGGGCGCCCCTGCTTGTGGA

Phenotype

MIM: 605323 MIM: 612152 MIM: 600266

Polymorphism

C/G, Transversion Substitution

Allele Nomenclature

Literature Links

CTDSP1 PubMed Links

Additional Information

For this assay, SNP(s) [rs2227249] are located under a probe and SNP(s) [rs2227251] 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

CTDSP1

Gene Name

CTD small phosphatase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001206878.1	505	Missense Mutation	CAC,GAC	H57D	NP_001193807.1
NM_021198.2	505	Missense Mutation	CAC,GAC	H57D	NP_067021.1
NM_182642.2	505	Missense Mutation	CAC,GAC	H57D	NP_872580.1
XM_011511569.2	505	Missense Mutation	CAC,GAC	H190D	XP_011509871.1
XM_011511570.2	505	Missense Mutation	CAC,GAC	H190D	XP_011509872.1
XM_017004615.1	505	Missense Mutation	CAC,GAC	H190D	XP_016860104.1
XM_017004616.1	505	Missense Mutation	CAC,GAC	H190D	XP_016860105.1
XM_017004617.1	505	Missense Mutation	CAC,GAC	H57D	XP_016860106.1
XM_017004618.1	505	Missense Mutation	CAC,GAC	H57D	XP_016860107.1

Gene

MIR26B

Gene Name

microRNA 26b

There are no transcripts associated with this gene.

Gene

SLC11A1

Gene Name

solute carrier family 11 member 1

There are no transcripts associated with this gene.

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