RGD:15191128 Rat Genome Database

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Variant: RGD:15191128 -  Homo sapiens

RGD ID: 15191128
RS ID: rs137878255
ClinVar ID: CV699731
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NAMPT  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 105,902,124
GRCh38 7 106,261,678
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005746.3:c.999T>C
NC_000007.14:g.106261678A>G
NC_000007.13:g.105902124A>G
NM_005746.2:c.999T>C
More... 		10/25/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NAMPT
Accession:XM_047419699
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 333
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPAAEAEFNILLATDSYKVTHYKQYPPNTSKVYSYFECREKKTENSKLRKVKYEETVFYGLQYILNKYLKGKVVTKEKI
QEAKDVYKEHFQDDVFNEKGWNYILEKYDGHLPIEIKAVPEGFVIPRGNVLFTVENTDPECYWLTNWIETILVQSWYPIT
VATNSREQKKILAKYLLETSGNLDGLEYKLHDFGYRGVSSQETAGIGASAHLVNFKGTDTVAGLALIKKYYGTKDPVPGY
SVPAAEHSTITAWGKDHEKDAFEHIVTQFSSVPVSVVSDSYDIYNACEKIWGEDLRHLIVSRSTQAPLIIRPDSGNPLDT
VLKVLEILGKKFPVTENSKGYKLLPPYLRVIQGDGVDINTLQEIVEGMKQKMWSIENIAFGSGGGLLQKLTRDLLNCSFK
CSYVVTNGLGINVFKDPVADPNKRSKKGRLSLHRTPAGNFVTLEEGKGDLEEYGQDLLHTVFKNGKVTKSYSFDEIRKNA
QLNIELEAAHH*

Gene Symbol:NAMPT
Accession:NM_005746
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 333
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPAAEAEFNILLATDSYKVTHYKQYPPNTSKVYSYFECREKKTENSKLRKVKYEETVFYGLQYILNKYLKGKVVTKEKI
QEAKDVYKEHFQDDVFNEKGWNYILEKYDGHLPIEIKAVPEGFVIPRGNVLFTVENTDPECYWLTNWIETILVQSWYPIT
VATNSREQKKILAKYLLETSGNLDGLEYKLHDFGYRGVSSQETAGIGASAHLVNFKGTDTVAGLALIKKYYGTKDPVPGY
SVPAAEHSTITAWGKDHEKDAFEHIVTQFSSVPVSVVSDSYDIYNACEKIWGEDLRHLIVSRSTQAPLIIRPDSGNPLDT
VLKVLEILGKKFPVTENSKGYKLLPPYLRVIQGDGVDINTLQEIVEGMKQKMWSIENIAFGSGGGLLQKLTRDLLNCSFK
CSYVVTNGLGINVFKDPVADPNKRSKKGRLSLHRTPAGNFVTLEEGKGDLEEYGQDLLHTVFKNGKVTKSYSFDEIRKNA
QLNIELEAAHH*

Gene Symbol:NAMPT
Accession:XM_047419700
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000954683 CLINVAR
dbSNP (RS) rs137878255 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NAMPT CLINVAR
OMIM 608764 CLINVAR