Product Details

SNP ID
rs140756663
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:116278733 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGATGAGGTCTTGGTTTCTGCGAAT[G/T]AAGGACTGGGGTTCATGCCCCCTGC
Phenotype
MIM: 605942 MIM: 604714
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
DSE PubMed Links

Gene Details

Gene
DSE
Gene Name
dermatan sulfate epimerase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001080976.2 1385 Intron NP_001074445.1
NM_001322937.1 1385 Intron NP_001309866.1
NM_001322938.1 1385 Intron NP_001309867.1
NM_001322939.1 1385 Intron NP_001309868.1
NM_001322940.1 1385 Intron NP_001309869.1
NM_001322941.1 1385 Intron NP_001309870.1
NM_001322943.1 1385 Intron NP_001309872.1
NM_001322944.1 1385 Intron NP_001309873.1
NM_013352.3 1385 Intron NP_037484.1
XM_017010795.1 1385 Intron XP_016866284.1
XM_017010796.1 1385 Intron XP_016866285.1
XM_017010797.1 1385 Intron XP_016866286.1
Gene
TSPYL1
Gene Name
TSPY like 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_003309.3 1385 Missense Mutation TTA,TTC L366F NP_003300.1

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