Product Details

SNP ID

rs199966443

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:139561362 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGTCTGGAAGGTCTTCAAGACGTCT[G/T]CCCCACAGAGAAGCTTCAGCTCAGG

Phenotype

MIM: 608702

Polymorphism

G/T, 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	904	Missense Mutation	GAA,GCA	E47A	NP_001186976.1
NM_001320510.1	904	Missense Mutation	GAA,GCA	E230A	NP_001307439.1
NM_001320511.1	904	Missense Mutation	GAA,GCA	E136A	NP_001307440.1
NM_001320512.1	904	Missense Mutation	GAA,GCA	E136A	NP_001307441.1
NM_001320513.1	904	Missense Mutation	GAA,GCA	E26A	NP_001307442.1
NM_178177.4	904	Missense Mutation	GAA,GCA	E99A	NP_835471.1
XM_011512790.1	904	Missense Mutation	GAA,GCA	E99A	XP_011511092.1
XM_011512791.2	904	Missense Mutation	GAA,GCA	E99A	XP_011511093.1
XM_017006328.1	904	Missense Mutation	GAA,GCA	E230A	XP_016861817.1
XM_017006329.1	904	Missense Mutation	GAA,GCA	E230A	XP_016861818.1
XM_017006330.1	904	Missense Mutation	GAA,GCA	E230A	XP_016861819.1
XM_017006331.1	904	Missense Mutation	GAA,GCA	E230A	XP_016861820.1
XM_017006332.1	904	Missense Mutation	GAA,GCA	E230A	XP_016861821.1
XM_017006333.1	904	Missense Mutation	GAA,GCA	E230A	XP_016861822.1
XM_017006334.1	904	Missense Mutation	GAA,GCA	E230A	XP_016861823.1
XM_017006335.1	904	Missense Mutation	GAA,GCA	E136A	XP_016861824.1
XM_017006336.1	904	Missense Mutation	GAA,GCA	E136A	XP_016861825.1
XM_017006337.1	904	Missense Mutation	GAA,GCA	E136A	XP_016861826.1
XM_017006338.1	904	Missense Mutation	GAA,GCA	E99A	XP_016861827.1
XM_017006339.1	904	UTR 3			XP_016861828.1
XM_017006340.1	904	UTR 3			XP_016861829.1
XM_017006341.1	904	UTR 3			XP_016861830.1
XM_017006342.1	904	UTR 3			XP_016861831.1
XM_017006343.1	904	UTR 3			XP_016861832.1
XM_017006344.1	904	UTR 3			XP_016861833.1

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