Product Details

SNP ID

rs11650527

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.17:3637914 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CAAGCCTGTCTCCAGTGCACACAGC[A/C]CTTGCCACTATTTGTGTACCCTCTC

Phenotype

MIM: 606272 MIM: 605060

Polymorphism

A/C, Transversion Substitution

Allele Nomenclature

Literature Links

CTNS PubMed Links

Additional Information

For this assay, SNP(s) [rs59279689] 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

CTNS

Gene Name

cystinosin, lysosomal cystine transporter

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001031681.2		Intron			NP_001026851.2
NM_004937.2		Intron			NP_004928.2
XM_005256485.2		Intron			XP_005256542.1
XM_006721463.2		Intron			XP_006721526.1
XM_006721464.2		Intron			XP_006721527.1
XM_011523691.2		Intron			XP_011521993.1
XM_011523692.2		Intron			XP_011521994.1
XM_017024254.1		Intron			XP_016879743.1
XM_017024255.1		Intron			XP_016879744.1
XM_017024256.1		Intron			XP_016879745.1
XM_017024257.1		Intron			XP_016879746.1
XM_017024258.1		Intron			XP_016879747.1

Gene

SHPK

Gene Name

sedoheptulokinase

There are no transcripts associated with this gene.

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