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SNP ID: rs144743254
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.3:52706840 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: ACGTGGCTGAACAGTTCGGGTGGAC[G/T]GTCTATATAGTTATGGCCGGATTTG
Phenotype: MIM: 601959 MIM: 610358
Polymorphism: G/T, Transversion substitution
Allele Nomenclature
Literature Links: GLT8D1 PubMed Links

Gene Details

Gene: GLT8D1
Gene Name: glycosyltransferase 8 domain containing 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010983.2	550	Intron			NP_001010983.1
NM_001278280.1	550	Intron			NP_001265209.1
NM_001278281.1	550	Intron			NP_001265210.1
NM_018446.3	550	Intron			NP_060916.1
NM_152932.2	550	Intron			NP_690909.1
XM_017006857.1	550	Intron			XP_016862346.1
XM_017006858.1	550	Intron			XP_016862347.1
XM_017006859.1	550	Intron			XP_016862348.1

Gene: NEK4
Gene Name: NIMA related kinase 4

There are no transcripts associated with this gene.

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	550	Silent Mutation	ACG,ACT	T115T	NP_054760.3

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