Product Details

SNP ID
rs138976771
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:116276147 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TATCTCCTCTATGGGGAACAGAAAG[A/T]CTTTGGCAGAGGAATTACCAAGGGC
Phenotype
MIM: 605942 MIM: 604714
Polymorphism
A/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 3971 Intron NP_001074445.1
NM_001322937.1 3971 Intron NP_001309866.1
NM_001322938.1 3971 Intron NP_001309867.1
NM_001322939.1 3971 Intron NP_001309868.1
NM_001322940.1 3971 Intron NP_001309869.1
NM_001322941.1 3971 Intron NP_001309870.1
NM_001322943.1 3971 Intron NP_001309872.1
NM_001322944.1 3971 Intron NP_001309873.1
NM_013352.3 3971 Intron NP_037484.1
XM_017010795.1 3971 Intron XP_016866284.1
XM_017010796.1 3971 Intron XP_016866285.1
XM_017010797.1 3971 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 3971 UTR 3 NP_003300.1

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