Product Details

SNP ID

rs142895576

Assay Type

Functionally tested

NCBI dbSNP Submissions

11

Location

Chr.1:46189913 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTTCTCCATTCGAATAAAGGCCA[C/T]GTAGGTGTGGCCCTCTGTGTCTGGC

Phenotype

MIM: 606822 MIM: 613170

Polymorphism

C/T, Transition 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	1764	Missense Mutation	ATG,GTG	M576V	NP_001230695.1
NM_001290129.1	1764	Missense Mutation	ATG,GTG	M554V	NP_001277058.1
NM_001290130.1	1764	Missense Mutation	ATG,GTG	M433V	NP_001277059.1
NM_017739.3	1764	Missense Mutation	ATG,GTG	M576V	NP_060209.3
XM_005271010.1	1764	Missense Mutation	ATG,GTG	M576V	XP_005271067.1
XM_006710755.1	1764	Missense Mutation	ATG,GTG	M576V	XP_006710818.1
XM_006710756.1	1764	Missense Mutation	ATG,GTG	M576V	XP_006710819.1
XM_011541760.2	1764	Missense Mutation	ATG,GTG	M554V	XP_011540062.1
XM_017001690.1	1764	Missense Mutation	ATG,GTG	M576V	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	1764	Intron			NP_005718.2
XM_011540460.2	1764	Intron			XP_011538762.1

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