RGD:15160843 Rat Genome Database

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Variant: RGD:15160843 -  Homo sapiens

RGD ID: 15160843
RS ID: rs142691178
ClinVar ID: CV754169
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FLVCR2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 76,088,422
GRCh38 14 75,622,079
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001195283.2:c.55C>G
NM_017791.3:c.670C>G
NG_027694.1:g.48483C>G
NC_000014.9:g.75622079C>G
More... 		06/14/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:FLVCR2
Accession:NM_001195283
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 19
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSADNSSTICVCRSVRQEVGIAIGFLVPPVLVPNIEDRDELAYHISIMFYIIGGVATLLLILVIIVFKEKPKYPPSRAQS
LSYALTSPDASYLGSIARLFKNLNFVLLVITYGLNAGAFYALSTLLNRMVIWHYPGEEVNAGRIGLTIVIAGMLGAVISG
IWLDRSKTYKETTLVVYIMTLVGMVVYTFTLNLGHLWVVFITAGTMGFFMTGYLPLGFEFAVELTYPESEGISSGLLNIS
AQVFGIIFTISQGQIIDNYGTKPGNIFLCVFLTLGAALTAFIKADLRRQKANKETLENKLQEEEEESNTSKVPTAVSEDH
L*

Gene Symbol:FLVCR2
Accession:NM_017791
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 224
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVNEGPNQEESDDTPVPESALQADPSVSVHPSVSVHPSVSINPSVSVHPSSSAHPSALAQPSGLAHPSSSGPEDLSVIKV
SRRRWAVVLVFSCYSMCNSFQWIQYGSINNIFMHFYGVSAFAIDWLSMCYMLTYIPLLLPVAWLLEKFGLRTIALTGSAL
NCLGAWVKLGSLKPHLFPVTVVGQLICSVAQVFILGMPSRIASVWFGANEVSTACSVAVFGNQVGIAIGFLVPPVLVPNI
EDRDELAYHISIMFYIIGGVATLLLILVIIVFKEKPKYPPSRAQSLSYALTSPDASYLGSIARLFKNLNFVLLVITYGLN
AGAFYALSTLLNRMVIWHYPGEEVNAGRIGLTIVIAGMLGAVISGIWLDRSKTYKETTLVVYIMTLVGMVVYTFTLNLGH
LWVVFITAGTMGFFMTGYLPLGFEFAVELTYPESEGISSGLLNISAQVFGIIFTISQGQIIDNYGTKPGNIFLCVFLTLG
AALTAFIKADLRRQKANKETLENKLQEEEEESNTSKVPTAVSEDHL*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000925566 CLINVAR
dbSNP (RS) rs142691178 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene FLVCR2 CLINVAR
OMIM 610865 CLINVAR