Product Details

SNP ID

rs148716367

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:116250538 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATAATTGAGAGAAAACATCGACTTA[C/T]ATTTTGTTTACAAAAATCTACTGGT

Phenotype

MIM: 605942

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

DSE PubMed Links

Gene Details

Gene

DSE

Gene Name

dermatan sulfate epimerase

There are no transcripts associated with this gene.

Gene

NT5DC1

Gene Name

5'-nucleotidase domain containing 1

There are no transcripts associated with this gene.

Gene

TSPYL4

Gene Name

TSPY like 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_021648.4	3561	UTR 3			NP_067680.3

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