Product Details

SNP ID

rs10484838

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:116276561 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TGATTCTGTAATTTTTAGTTAACAT[C/G]AATTTAAGGACTTTAATGATTTTAA

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	3557	Intron			NP_001074445.1
NM_001322937.1	3557	Intron			NP_001309866.1
NM_001322938.1	3557	Intron			NP_001309867.1
NM_001322939.1	3557	Intron			NP_001309868.1
NM_001322940.1	3557	Intron			NP_001309869.1
NM_001322941.1	3557	Intron			NP_001309870.1
NM_001322943.1	3557	Intron			NP_001309872.1
NM_001322944.1	3557	Intron			NP_001309873.1
NM_013352.3	3557	Intron			NP_037484.1
XM_017010795.1	3557	Intron			XP_016866284.1
XM_017010796.1	3557	Intron			XP_016866285.1
XM_017010797.1	3557	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	3557	UTR 3			NP_003300.1

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