Product Details

SNP ID

rs112292133

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:139561222 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGGTGAATGTTGTGCTGGTGCATCC[C/G]TAGGATGGGAGATTCTGCGATGTAA

Phenotype

MIM: 608702

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LOC100507291 PubMed Links

Gene Details

Gene

LOC100507291

Gene Name

uncharacterized LOC100507291

There are no transcripts associated with this gene.

Gene

NMNAT3

Gene Name

nicotinamide nucleotide adenylyltransferase 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001200047.2	1044	Missense Mutation	CGG,GGG	R94G	NP_001186976.1
NM_001320510.1	1044	Missense Mutation	CGG,GGG	R277G	NP_001307439.1
NM_001320511.1	1044	Missense Mutation	CGG,GGG	R183G	NP_001307440.1
NM_001320512.1	1044	Missense Mutation	CGG,GGG	R183G	NP_001307441.1
NM_001320513.1	1044	Missense Mutation	CGG,GGG	R73G	NP_001307442.1
NM_178177.4	1044	Missense Mutation	CGG,GGG	R146G	NP_835471.1
XM_011512790.1	1044	Missense Mutation	CGG,GGG	R146G	XP_011511092.1
XM_011512791.2	1044	Missense Mutation	CGG,GGG	R146G	XP_011511093.1
XM_017006328.1	1044	Missense Mutation	CGG,GGG	R277G	XP_016861817.1
XM_017006329.1	1044	Missense Mutation	CGG,GGG	R277G	XP_016861818.1
XM_017006330.1	1044	Missense Mutation	CGG,GGG	R277G	XP_016861819.1
XM_017006331.1	1044	Missense Mutation	CGG,GGG	R277G	XP_016861820.1
XM_017006332.1	1044	Missense Mutation	CGG,GGG	R277G	XP_016861821.1
XM_017006333.1	1044	Missense Mutation	CGG,GGG	R277G	XP_016861822.1
XM_017006334.1	1044	Missense Mutation	CGG,GGG	R277G	XP_016861823.1
XM_017006335.1	1044	Missense Mutation	CGG,GGG	R183G	XP_016861824.1
XM_017006336.1	1044	Missense Mutation	CGG,GGG	R183G	XP_016861825.1
XM_017006337.1	1044	Missense Mutation	CGG,GGG	R183G	XP_016861826.1
XM_017006338.1	1044	Missense Mutation	CGG,GGG	R146G	XP_016861827.1
XM_017006339.1	1044	UTR 3			XP_016861828.1
XM_017006340.1	1044	UTR 3			XP_016861829.1
XM_017006341.1	1044	UTR 3			XP_016861830.1
XM_017006342.1	1044	UTR 3			XP_016861831.1
XM_017006343.1	1044	UTR 3			XP_016861832.1
XM_017006344.1	1044	UTR 3			XP_016861833.1

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