Product Details

SNP ID

rs6568925

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.6:116275316 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TCTGTTAAAATGCAAGTGAAAGATT[A/T]AATGTTGAAAGTGTTTAGACGTTTT

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	4802	Intron			NP_001074445.1
NM_001322937.1	4802	Intron			NP_001309866.1
NM_001322938.1	4802	Intron			NP_001309867.1
NM_001322939.1	4802	Intron			NP_001309868.1
NM_001322940.1	4802	Intron			NP_001309869.1
NM_001322941.1	4802	Intron			NP_001309870.1
NM_001322943.1	4802	Intron			NP_001309872.1
NM_001322944.1	4802	Intron			NP_001309873.1
NM_013352.3	4802	Intron			NP_037484.1
XM_017010795.1	4802	Intron			XP_016866284.1
XM_017010796.1	4802	Intron			XP_016866285.1
XM_017010797.1	4802	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	4802	UTR 3			NP_003300.1

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