Product Details

SNP ID

rs141438157

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:3663853 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGGTGAGCCGCTTGCGGGCCTGGTC[A/G]TGTGTGACCATGGTCATGTCCCAGC

Phenotype

MIM: 606272 MIM: 602836 MIM: 616484

Polymorphism

A/G, 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	423	Intron			NP_001026851.2
NM_004937.2	423	Intron			NP_004928.2
XM_005256485.2	423	Intron			XP_005256542.1
XM_006721463.2	423	Intron			XP_006721526.1
XM_006721464.2	423	Intron			XP_006721527.1
XM_011523691.2	423	Intron			XP_011521993.1
XM_011523692.2	423	Intron			XP_011521994.1
XM_017024254.1	423	Intron			XP_016879743.1
XM_017024255.1	423	Intron			XP_016879744.1
XM_017024256.1	423	Intron			XP_016879745.1
XM_017024257.1	423	Intron			XP_016879746.1
XM_017024258.1	423	Intron			XP_016879747.1

Gene

EMC6

Gene Name

ER membrane protein complex subunit 6

There are no transcripts associated with this gene.

Gene

P2RX5

Gene Name

purinergic receptor P2X 5

There are no transcripts associated with this gene.

Gene

P2RX5-TAX1BP3

Gene Name

P2RX5-TAX1BP3 readthrough (NMD candidate)

There are no transcripts associated with this gene.

Gene

TAX1BP3

Gene Name

Tax1 binding protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204698.1	423	Silent Mutation	CAC,CAT	H64H	NP_001191627.1
NM_014604.3	423	Silent Mutation	CAC,CAT	H90H	NP_055419.1

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