Product Details

SNP ID

rs144068158

Assay Type

Functionally tested

NCBI dbSNP Submissions

2

Location

Chr.1:46189306 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGGGGCTCCTGGGGCTCCCTCCTC[A/C]TTTGGGGGTGGCTCCAGGAAAATTG

Phenotype

MIM: 606822 MIM: 613170

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

POMGNT1 PubMed Links

Gene Details

Gene

POMGNT1

Gene Name

protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001243766.1	1985	Nonsense Mutation	GGA,TGA	G641*	NP_001230695.1
NM_001290129.1	1985	Missense Mutation	AAG,AAT	K627N	NP_001277058.1
NM_001290130.1	1985	Missense Mutation	AAG,AAT	K506N	NP_001277059.1
NM_017739.3	1985	Missense Mutation	AAG,AAT	K649N	NP_060209.3
XM_005271010.1	1985	Intron			XP_005271067.1
XM_006710755.1	1985	Intron			XP_006710818.1
XM_006710756.1	1985	Nonsense Mutation	GGA,TGA	G641*	XP_006710819.1
XM_011541760.2	1985	Missense Mutation	AAG,AAT	K627N	XP_011540062.1
XM_017001690.1	1985	Missense Mutation	AAG,AAT	K649N	XP_016857179.1

Gene

TSPAN1

Gene Name

tetraspanin 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005727.3	1985	Intron			NP_005718.2
XM_011540460.2	1985	Intron			XP_011538762.1

View Full Product Details