Product Details

SNP ID

rs111977802

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:3636541 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGGAGGCGCTGGCGGCTCCAAGAG[C/T]CTCTGTGTCCCTGGCAGCGGACCTC

Phenotype

MIM: 606272 MIM: 605060

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CTNS PubMed Links

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	74	UTR 5			NP_001026851.2
NM_004937.2	74	UTR 5			NP_004928.2
XM_005256485.2	74	UTR 5			XP_005256542.1
XM_006721463.2	74	UTR 5			XP_006721526.1
XM_006721464.2	74	UTR 5			XP_006721527.1
XM_011523691.2	74	Intron			XP_011521993.1
XM_011523692.2	74	UTR 5			XP_011521994.1
XM_017024254.1	74	UTR 5			XP_016879743.1
XM_017024255.1	74	UTR 5			XP_016879744.1
XM_017024256.1	74	UTR 5			XP_016879745.1
XM_017024257.1	74	UTR 5			XP_016879746.1
XM_017024258.1	74	UTR 5			XP_016879747.1

Gene

SHPK

Gene Name

sedoheptulokinase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_013276.2	74	Intron			NP_037408.2

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