Product Details

SNP ID: rs199733019
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:52707696 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CTCTTTTCTGGCCCAGCTGACACTT[C/G]CTCCATGGCCCATCTATCGCCGGCA
Phenotype: MIM: 601959 MIM: 610358
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: GLT8D1 PubMed Links

Gene Details

Gene: GLT8D1
Gene Name: glycosyltransferase 8 domain containing 1

There are no transcripts associated with this gene.

Gene: NEK4
Gene Name: NIMA related kinase 4

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001193533.1	599	Intron			NP_001180462.1
NM_003157.4	599	Intron			NP_003148.2
XM_006713310.2	599	Intron			XP_006713373.1
XM_011534039.2	599	Intron			XP_011532341.1
XM_011534040.2	599	Intron			XP_011532342.1
XM_017007085.1	599	Intron			XP_016862574.1
XM_017007086.1	599	Intron			XP_016862575.1

Gene: SPCS1
Gene Name: signal peptidase complex subunit 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_014041.3	599	Missense Mutation	CCT,GCT	P132A	NP_054760.3

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