Product Details

SNP ID
rs141673529
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:116276293 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
ATCACATATGATAGGTACTCCCTGC[A/G]TACAAGTTAATAAAAAGAAGAGCCT
Phenotype
MIM: 605942 MIM: 604714
Polymorphism
A/G, Transition 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 3825 Intron NP_001074445.1
NM_001322937.1 3825 Intron NP_001309866.1
NM_001322938.1 3825 Intron NP_001309867.1
NM_001322939.1 3825 Intron NP_001309868.1
NM_001322940.1 3825 Intron NP_001309869.1
NM_001322941.1 3825 Intron NP_001309870.1
NM_001322943.1 3825 Intron NP_001309872.1
NM_001322944.1 3825 Intron NP_001309873.1
NM_013352.3 3825 Intron NP_037484.1
XM_017010795.1 3825 Intron XP_016866284.1
XM_017010796.1 3825 Intron XP_016866285.1
XM_017010797.1 3825 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 3825 UTR 3 NP_003300.1

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