RGD:15184924 Rat Genome Database

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Variant: RGD:15184924 -  Homo sapiens

RGD ID: 15184924
RS ID: rs41271967
ClinVar ID: CV718339
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NOS1AP  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 162,270,463
GRCh38 1 162,300,673
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001164757.2:c.296G>A
NM_014697.3:c.311G>A
NG_015979.2:g.235883G>A
NC_000001.11:g.162300673G>A
More... 		04/23/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NOS1AP
Accession:NM_001164757
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPRPNSRVEIVAAMRRIRYEFKAKNIKKKKVSIMVSVDG
VKVILKKKKKKKEWTWDENKMLVMQDPIYRIFYVSHDSQDLKIFSYIARDGASNIFRCNVFKSKKKSQAMRIVRTVGQAF
EVCHKLSLQHTQQNADGQEDGESERNSNSSGDPGRQLTGAERASTATAEETDIDAVEVPLPGNDVLEFSRGVTDLDAVGK
EGGSHTGSKVSHPQEPMLTASPRMLLPSSSSKPPGLGTETPLSTHHQMQLLQQLLQQQQQQTQVAVAQVHLLKDQLAAEA
AARLEAQARVHQLLLQNKDMLQHISLLVKQVQELELKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLHSPPLG
AGLADFAHPAGSPLGRRDCLVKLECFRFLPPEDTPPPAQGEALLGGLELIKFRESGIASEYESNTDESEERDSWSQEELP
RLLNVLQRQELGDGLDDEIAV*

Gene Symbol:NOS1AP
Accession:NM_014697
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 104
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPRPNSRVEIVAAMRRIRYEFKAKNIKKKKVSIMVSVDG
VKVILKKKKKLLLLQKKEWTWDENKMLVMQDPIYRIFYVSHDSQDLKIFSYIARDGASNIFRCNVFKSKKKSQAMRIVRT
VGQAFEVCHKLSLQHTQQNADGQEDGESERNSNSSGDPGRQLTGAERASTATAEETDIDAVEVPLPGNDVLEFSRGVTDL
DAVGKEGGSHTGSKVSHPQEPMLTASPRMLLPSSSSKPPGLGTETPLSTHHQMQLLQQLLQQQQQQTQVAVAQVHLLKDQ
LAAEAAARLEAQARVHQLLLQNKDMLQHISLLVKQVQELELKLSGQNAMGSQDSLLEITFRSGALPVLCDPTTPKPEDLH
SPPLGAGLADFAHPAGSPLGRRDCLVKLECFRFLPPEDTPPPAQGEALLGGLELIKFRESGIASEYESNTDESEERDSWS
QEELPRLLNVLQRQELGDGLDDEIAV*

Gene Symbol:NOS1AP
Accession:NM_001126060
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000886557 CLINVAR
dbSNP (RS) rs41271967 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NOS1AP CLINVAR
OMIM 605551 CLINVAR