Product Details

SNP ID
rs199738061
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:47414582 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCAGGCCGCTTACCTGGTCAATG[C/T]ACACGGTCGTGATGGCCCCTGAGTG
Phenotype
MIM: 606584 MIM: 601510
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
PTPN23 PubMed Links

Gene Details

Gene
PTPN23
Gene Name
protein tyrosine phosphatase, non-receptor type 23
There are no transcripts associated with this gene.

Gene
SCAP
Gene Name
SREBF chaperone
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320044.1 3305 Missense Mutation TAC,TGC Y870C NP_001306973.1
NM_012235.3 3305 Missense Mutation TAC,TGC Y1126C NP_036367.2
XM_005264967.1 3305 Missense Mutation TAC,TGC Y1125C XP_005265024.1
XM_005264968.1 3305 Missense Mutation TAC,TGC Y871C XP_005265025.1
XM_005264971.1 3305 Missense Mutation TAC,TGC Y734C XP_005265028.1
XM_011533501.1 3305 Missense Mutation TAC,TGC Y1126C XP_011531803.1
XM_011533502.2 3305 Missense Mutation TAC,TGC Y745C XP_011531804.1
XM_017005918.1 3305 Missense Mutation TAC,TGC Y1126C XP_016861407.1
XM_017005919.1 3305 Missense Mutation TAC,TGC Y896C XP_016861408.1
XM_017005920.1 3305 Missense Mutation TAC,TGC Y895C XP_016861409.1
XM_017005921.1 3305 Missense Mutation TAC,TGC Y733C XP_016861410.1

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