Product Details

SNP ID

rs17849133

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:47414097 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CACCCAAGCTTGCACCACAGCCCAG[A/G]TCCTGGAGGCAAGGACATGACAAGC

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001304482.1	3525	Intron			NP_001291411.1
NM_015466.3	3525	Intron			NP_056281.1
XM_005265031.2	3525	Intron			XP_005265088.2

Gene

SCAP

Gene Name

SREBF chaperone

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001320044.1	3525	Silent Mutation	GAC,GAT	D943D	NP_001306973.1
NM_012235.3	3525	Silent Mutation	GAC,GAT	D1199D	NP_036367.2
XM_005264967.1	3525	Silent Mutation	GAC,GAT	D1198D	XP_005265024.1
XM_005264968.1	3525	Silent Mutation	GAC,GAT	D944D	XP_005265025.1
XM_005264971.1	3525	Silent Mutation	GAC,GAT	D807D	XP_005265028.1
XM_011533501.1	3525	Silent Mutation	GAC,GAT	D1199D	XP_011531803.1
XM_011533502.2	3525	Silent Mutation	GAC,GAT	D818D	XP_011531804.1
XM_017005918.1	3525	Silent Mutation	GAC,GAT	D1199D	XP_016861407.1
XM_017005919.1	3525	Silent Mutation	GAC,GAT	D969D	XP_016861408.1
XM_017005920.1	3525	Silent Mutation	GAC,GAT	D968D	XP_016861409.1
XM_017005921.1	3525	Silent Mutation	GAC,GAT	D806D	XP_016861410.1

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