Product Details

SNP ID: rs144433730
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.5:180791839 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: CACCCGCACCTCCCCCAGCTCCTTC[C/G]GGTCATTGGTCCTCACTTTCTCCAC
Phenotype: MIM: 160995
Polymorphism: C/G, Transversion substitution
Allele Nomenclature
Literature Links: MGAT1 PubMed Links

Gene Details

Gene: MGAT1
Gene Name: mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001114617.1	1899	Missense Mutation	CCG,CGG	P378R	NP_001108089.1
NM_001114618.1	1899	Missense Mutation	CCG,CGG	P378R	NP_001108090.1
NM_001114619.1	1899	Missense Mutation	CCG,CGG	P378R	NP_001108091.1
NM_001114620.1	1899	Missense Mutation	CCG,CGG	P378R	NP_001108092.1
NM_002406.3	1899	Missense Mutation	CCG,CGG	P378R	NP_002397.2
XM_005265915.1	1899	Missense Mutation	CCG,CGG	P378R	XP_005265972.1
XM_005265916.1	1899	Missense Mutation	CCG,CGG	P378R	XP_005265973.1
XM_006714866.1	1899	Missense Mutation	CCG,CGG	P378R	XP_006714929.1
XM_011534559.1	1899	Missense Mutation	CCG,CGG	P378R	XP_011532861.1
XM_011534560.1	1899	Missense Mutation	CCG,CGG	P378R	XP_011532862.1
XM_011534561.1	1899	Missense Mutation	CCG,CGG	P378R	XP_011532863.1
XM_011534562.1	1899	Missense Mutation	CCG,CGG	P378R	XP_011532864.1
XM_011534563.2	1899	Missense Mutation	CCG,CGG	P378R	XP_011532865.1
XM_017009486.1	1899	Missense Mutation	CCG,CGG	P378R	XP_016864975.1
XM_017009487.1	1899	Missense Mutation	CCG,CGG	P378R	XP_016864976.1