Product Details

SNP ID

rs200752492

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:98799379 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAAAAAGCAGCATCATCTTCAAAGG[A/T]TTTCTTTAAAAACATCACATTCCCC

Phenotype

MIM: 608698 MIM: 607156

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

DCBLD2 PubMed Links

Gene Details

Gene

DCBLD2

Gene Name

discoidin, CUB and LCCL domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080927.3	2400	Missense Mutation	AAC,ATC	N774I	NP_563615.3
XM_011512419.2	2400	Missense Mutation	AAC,ATC	N698I	XP_011510721.1

Gene

ST3GAL6

Gene Name

ST3 beta-galactoside alpha-2,3-sialyltransferase 6

There are no transcripts associated with this gene.

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