Product Details

SNP ID

rs183681428

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:116252795 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGACTGGAACCTGAAGGATCTGGCG[C/T]TCTCCACTGGCTGCCTTGGTGGGCC

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	1304	Missense Mutation	AAC,AGC	N405S	NP_067680.3

View Full Product Details