Product Details

SNP ID

rs199713079

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:5206831 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACTCCAGTGCCGCCTGGTAACAGAA[A/C]TGGTACTCATCCTGGGGGAGCAGAG

Phenotype

MIM: 601576

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PTPRS PubMed Links

Gene Details

Gene

PTPRS

Gene Name

protein tyrosine phosphatase, receptor type S

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_002850.3	5953	Missense Mutation	CAG,CAT	Q1930H	NP_002841.3
NM_130853.2	5953	Missense Mutation	CAG,CAT	Q1483H	NP_570923.2
NM_130854.2	5953	Missense Mutation	CAG,CAT	Q1892H	NP_570924.2
NM_130855.2	5953	Missense Mutation	CAG,CAT	Q1487H	NP_570925.2
XM_005259600.2	5953	Missense Mutation	CAG,CAT	Q1917H	XP_005259657.1
XM_005259606.2	5953	Missense Mutation	CAG,CAT	Q1892H	XP_005259663.1
XM_005259607.2	5953	Missense Mutation	CAG,CAT	Q1888H	XP_005259664.1
XM_005259609.1	5953	Missense Mutation	CAG,CAT	Q1483H	XP_005259666.1
XM_005259610.1	5953	Missense Mutation	CAG,CAT	Q1479H	XP_005259667.1
XM_011528157.2	5953	Missense Mutation	CAG,CAT	Q1499H	XP_011526459.1
XM_011528158.2	5953	Missense Mutation	CAG,CAT	Q1139H	XP_011526460.1
XM_017027065.1	5953	Missense Mutation	CAG,CAT	Q1921H	XP_016882554.1
XM_017027066.1	5953	Missense Mutation	CAG,CAT	Q1921H	XP_016882555.1
XM_017027067.1	5953	Missense Mutation	CAG,CAT	Q1921H	XP_016882556.1
XM_017027068.1	5953	Missense Mutation	CAG,CAT	Q1917H	XP_016882557.1
XM_017027069.1	5953	Missense Mutation	CAG,CAT	Q1912H	XP_016882558.1
XM_017027070.1	5953	Missense Mutation	CAG,CAT	Q1905H	XP_016882559.1
XM_017027071.1	5953	Missense Mutation	CAG,CAT	Q1901H	XP_016882560.1
XM_017027072.1	5953	Missense Mutation	CAG,CAT	Q1892H	XP_016882561.1
XM_017027073.1	5953	Missense Mutation	CAG,CAT	Q1679H	XP_016882562.1
XM_017027074.1	5953	Missense Mutation	CAG,CAT	Q1503H	XP_016882563.1
XM_017027075.1	5953	Missense Mutation	CAG,CAT	Q1499H	XP_016882564.1
XM_017027076.1	5953	Missense Mutation	CAG,CAT	Q1487H	XP_016882565.1

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