Product Details

SNP ID

rs140490627

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:139561068 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTTGCCTTTCCAGGTACTGCCCTTG[A/G]TGTAGAGGCCATGGTCCTTGATGTA

Phenotype

MIM: 608702

Polymorphism

A/G, Transition 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	1198	Missense Mutation	ACC,ATC	T145I	NP_001186976.1
NM_001320510.1	1198	Missense Mutation	ACC,ATC	T328I	NP_001307439.1
NM_001320511.1	1198	Missense Mutation	ACC,ATC	T234I	NP_001307440.1
NM_001320512.1	1198	Missense Mutation	ACC,ATC	T234I	NP_001307441.1
NM_001320513.1	1198	Missense Mutation	ACC,ATC	T124I	NP_001307442.1
NM_178177.4	1198	Missense Mutation	ACC,ATC	T197I	NP_835471.1
XM_011512790.1	1198	Missense Mutation	ACC,ATC	T197I	XP_011511092.1
XM_011512791.2	1198	Missense Mutation	ACC,ATC	T197I	XP_011511093.1
XM_017006328.1	1198	Missense Mutation	ACC,ATC	T328I	XP_016861817.1
XM_017006329.1	1198	Missense Mutation	ACC,ATC	T328I	XP_016861818.1
XM_017006330.1	1198	Missense Mutation	ACC,ATC	T328I	XP_016861819.1
XM_017006331.1	1198	Missense Mutation	ACC,ATC	T328I	XP_016861820.1
XM_017006332.1	1198	Missense Mutation	ACC,ATC	T328I	XP_016861821.1
XM_017006333.1	1198	Missense Mutation	ACC,ATC	T328I	XP_016861822.1
XM_017006334.1	1198	Missense Mutation	ACC,ATC	T328I	XP_016861823.1
XM_017006335.1	1198	Missense Mutation	ACC,ATC	T234I	XP_016861824.1
XM_017006336.1	1198	Missense Mutation	ACC,ATC	T234I	XP_016861825.1
XM_017006337.1	1198	Missense Mutation	ACC,ATC	T234I	XP_016861826.1
XM_017006338.1	1198	Missense Mutation	ACC,ATC	T197I	XP_016861827.1
XM_017006339.1	1198	UTR 3			XP_016861828.1
XM_017006340.1	1198	UTR 3			XP_016861829.1
XM_017006341.1	1198	UTR 3			XP_016861830.1
XM_017006342.1	1198	UTR 3			XP_016861831.1
XM_017006343.1	1198	UTR 3			XP_016861832.1
XM_017006344.1	1198	UTR 3			XP_016861833.1

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