Product Details

SNP ID
rs200556782
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:116278742 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTTGGTTTCTGCGAATGAAGGACTG[C/G]GGTTCATGCCCCCTGCGCCATATAA
Phenotype
MIM: 605942 MIM: 604714
Polymorphism
C/G, 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 1376 Intron NP_001074445.1
NM_001322937.1 1376 Intron NP_001309866.1
NM_001322938.1 1376 Intron NP_001309867.1
NM_001322939.1 1376 Intron NP_001309868.1
NM_001322940.1 1376 Intron NP_001309869.1
NM_001322941.1 1376 Intron NP_001309870.1
NM_001322943.1 1376 Intron NP_001309872.1
NM_001322944.1 1376 Intron NP_001309873.1
NM_013352.3 1376 Intron NP_037484.1
XM_017010795.1 1376 Intron XP_016866284.1
XM_017010796.1 1376 Intron XP_016866285.1
XM_017010797.1 1376 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 1376 Silent Mutation CCC,CCG P363P NP_003300.1

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