Product Details

SNP ID
rs145829837
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:47414647 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGGCAGCACGAGTCCTCCAGACG[A/G]AACACCTGGGACAGGGATGGGCCTC
Phenotype
MIM: 606584 MIM: 601510
Polymorphism
A/G, 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 3240 Silent Mutation NP_001306973.1
NM_012235.3 3240 Silent Mutation NP_036367.2
XM_005264967.1 3240 Silent Mutation XP_005265024.1
XM_005264968.1 3240 Silent Mutation XP_005265025.1
XM_005264971.1 3240 Silent Mutation XP_005265028.1
XM_011533501.1 3240 Silent Mutation XP_011531803.1
XM_011533502.2 3240 Silent Mutation XP_011531804.1
XM_017005918.1 3240 Silent Mutation XP_016861407.1
XM_017005919.1 3240 Silent Mutation XP_016861408.1
XM_017005920.1 3240 Silent Mutation XP_016861409.1
XM_017005921.1 3240 Silent Mutation XP_016861410.1

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