Product Details

SNP ID

rs146954732

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:139561269 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GTAACCTTTTGGGTCGTGACCTACT[C/T]GGCCCACGCACACCAAGCCAAACTT

Phenotype

MIM: 608702

Polymorphism

C/T, 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	997	Missense Mutation	CAA,CGA	Q78R	NP_001186976.1
NM_001320510.1	997	Missense Mutation	CAA,CGA	Q261R	NP_001307439.1
NM_001320511.1	997	Missense Mutation	CAA,CGA	Q167R	NP_001307440.1
NM_001320512.1	997	Missense Mutation	CAA,CGA	Q167R	NP_001307441.1
NM_001320513.1	997	Missense Mutation	CAA,CGA	Q57R	NP_001307442.1
NM_178177.4	997	Missense Mutation	CAA,CGA	Q130R	NP_835471.1
XM_011512790.1	997	Missense Mutation	CAA,CGA	Q130R	XP_011511092.1
XM_011512791.2	997	Missense Mutation	CAA,CGA	Q130R	XP_011511093.1
XM_017006328.1	997	Missense Mutation	CAA,CGA	Q261R	XP_016861817.1
XM_017006329.1	997	Missense Mutation	CAA,CGA	Q261R	XP_016861818.1
XM_017006330.1	997	Missense Mutation	CAA,CGA	Q261R	XP_016861819.1
XM_017006331.1	997	Missense Mutation	CAA,CGA	Q261R	XP_016861820.1
XM_017006332.1	997	Missense Mutation	CAA,CGA	Q261R	XP_016861821.1
XM_017006333.1	997	Missense Mutation	CAA,CGA	Q261R	XP_016861822.1
XM_017006334.1	997	Missense Mutation	CAA,CGA	Q261R	XP_016861823.1
XM_017006335.1	997	Missense Mutation	CAA,CGA	Q167R	XP_016861824.1
XM_017006336.1	997	Missense Mutation	CAA,CGA	Q167R	XP_016861825.1
XM_017006337.1	997	Missense Mutation	CAA,CGA	Q167R	XP_016861826.1
XM_017006338.1	997	Missense Mutation	CAA,CGA	Q130R	XP_016861827.1
XM_017006339.1	997	UTR 3			XP_016861828.1
XM_017006340.1	997	UTR 3			XP_016861829.1
XM_017006341.1	997	UTR 3			XP_016861830.1
XM_017006342.1	997	UTR 3			XP_016861831.1
XM_017006343.1	997	UTR 3			XP_016861832.1
XM_017006344.1	997	UTR 3			XP_016861833.1

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