Product Details

SNP ID
rs149653532
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:116277254 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTGCGCTGTCTTTCTTTAAAGAACC[C/T]TTGTCTAGGCAACATATTTAACACT
Phenotype
MIM: 605942 MIM: 604714
Polymorphism
C/T, 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 2864 Intron NP_001074445.1
NM_001322937.1 2864 Intron NP_001309866.1
NM_001322938.1 2864 Intron NP_001309867.1
NM_001322939.1 2864 Intron NP_001309868.1
NM_001322940.1 2864 Intron NP_001309869.1
NM_001322941.1 2864 Intron NP_001309870.1
NM_001322943.1 2864 Intron NP_001309872.1
NM_001322944.1 2864 Intron NP_001309873.1
NM_013352.3 2864 Intron NP_037484.1
XM_017010795.1 2864 Intron XP_016866284.1
XM_017010796.1 2864 Intron XP_016866285.1
XM_017010797.1 2864 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 2864 UTR 3 NP_003300.1

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