Product Details

SNP ID
rs144078225
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:130358883 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTCTACCAGGACATCCAGGCCTGCT[C/T]GGCCGCCTGGAAGGCTGACGGCGTG
Phenotype
MIM: 606587
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PTPN18 PubMed Links

Gene Details

Gene
PTPN18
Gene Name
protein tyrosine phosphatase, non-receptor type 18
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142370.1 162 Intron NP_001135842.1
NM_014369.3 162 Missense Mutation TCG,TTG S37L NP_055184.2
XM_006712416.3 162 Intron XP_006712479.1
XM_006712417.1 162 Missense Mutation TCG,TTG S37L XP_006712480.1
XM_017003798.1 162 UTR 5 XP_016859287.1

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