RGD:127308350 Rat Genome Database

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Variant: RGD:127308350 -  Homo sapiens

RGD ID: 127308350
RS ID: rs77687333
ClinVar ID: CV1154590
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: WDR1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 4 10,082,999
GRCh38 4 10,081,375
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017491.5:c.1266G>A
NM_005112.5:c.846G>A
NG_027876.1:g.40575G>A
NC_000004.12:g.10081375C>T
More... 		09/01/2023 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:WDR1
Accession:XM_017008880
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 475
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPYEIKKVFASLPQVERGVSKIIGGDPKGNNFLYTNGKCVILRNIDNPALADIYTEHAHQVVVAKYAPSGFYIASGDVSG
KLRIWDTTQKEHLLKYEYQPFAGKIKDIAWTEDSKRIAVVGEGREKFGAVFLWDSGSSVGEITGHNKVINSVDIKQSRPY
RLATGSDDNCAAFFEGPPFKFKFTIGDHSRFVNCVRFSPDGNRFATASADGQTRRQSPVNACLLLNHTGSLVCEPRFSTA
TVHGETAYSRGCSHTHDPHVFISWKIYIYDGKTGEKVCALGGSKAHDGGIYAISWSPDSTHLLSASGDKTSKIWDVSVNS
VVSTFPMGSTVLDQQLGCLWQKDHLLSVSLSGYINYLDRNNPSKPLHVIKGHSKSIQCLTVHKNGGKSYIYSGSHDGHIN
YWDSETGENDSFAGKGHTNQVSRMTVDESGQLISCSMDDTVRYTSLMLRDYSGQGVVKLDVQPKCVAVGPGGYAVVVCIG
QIVLLKDQRKCFSIDNPGYEPEVVAVHPGGDTVAIGGVDGNVRLYSILGTTLKDEGKLLEAKGPVTDVAYSHDGAFLAVC
DASKVVTVFSVADGYSENNVFYGHHAKIVCLAWSPDNEHFASGGMDMMVYVWTLSDPETRVKIQDAHRLHHVSSLAWLDE
HTLVTTSHDASVKEWTITY*

Gene Symbol:WDR1
Accession:NM_005112
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 282
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPYEIKKVFASLPQVERGVSKIIGGDPKGNNFLYTNGKCVILRNIDDHSRFVNCVRFSPDGNRFATASADGQIYIYDGKT
GEKVCALGGSKAHDGGIYAISWSPDSTHLLSASGDKTSKIWDVSVNSVVSTFPMGSTVLDQQLGCLWQKDHLLSVSLSGY
INYLDRNNPSKPLHVIKGHSKSIQCLTVHKNGGKSYIYSGSHDGHINYWDSETGENDSFAGKGHTNQVSRMTVDESGQLI
SCSMDDTVRYTSLMLRDYSGQGVVKLDVQPKCVAVGPGGYAVVVCIGQIVLLKDQRKCFSIDNPGYEPEVVAVHPGGDTV
AIGGVDGNVRLYSILGTTLKDEGKLLEAKGPVTDVAYSHDGAFLAVCDASKVVTVFSVADGYSENNVFYGHHAKIVCLAW
SPDNEHFASGGMDMMVYVWTLSDPETRVKIQDAHRLHHVSSLAWLDEHTLVTTSHDASVKEWTITY*

Gene Symbol:WDR1
Accession:NM_017491
Location:EXON
Amino Acid Prediction: V to V (synonymous)
Amino Acid Position: 422
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPYEIKKVFASLPQVERGVSKIIGGDPKGNNFLYTNGKCVILRNIDNPALADIYTEHAHQVVVAKYAPSGFYIASGDVSG
KLRIWDTTQKEHLLKYEYQPFAGKIKDIAWTEDSKRIAVVGEGREKFGAVFLWDSGSSVGEITGHNKVINSVDIKQSRPY
RLATGSDDNCAAFFEGPPFKFKFTIGDHSRFVNCVRFSPDGNRFATASADGQIYIYDGKTGEKVCALGGSKAHDGGIYAI
SWSPDSTHLLSASGDKTSKIWDVSVNSVVSTFPMGSTVLDQQLGCLWQKDHLLSVSLSGYINYLDRNNPSKPLHVIKGHS
KSIQCLTVHKNGGKSYIYSGSHDGHINYWDSETGENDSFAGKGHTNQVSRMTVDESGQLISCSMDDTVRYTSLMLRDYSG
QGVVKLDVQPKCVAVGPGGYAVVVCIGQIVLLKDQRKCFSIDNPGYEPEVVAVHPGGDTVAIGGVDGNVRLYSILGTTLK
DEGKLLEAKGPVTDVAYSHDGAFLAVCDASKVVTVFSVADGYSENNVFYGHHAKIVCLAWSPDNEHFASGGMDMMVYVWT
LSDPETRVKIQDAHRLHHVSSLAWLDEHTLVTTSHDASVKEWTITY*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001517473 CLINVAR
dbSNP (RS) rs77687333 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene WDR1 CLINVAR
OMIM 604734 CLINVAR