RGD:14727422 Rat Genome Database

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Variant: RGD:14727422 -  Homo sapiens

RGD ID: 14727422
RS ID: rs1580894264
ClinVar ID: CV633074
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC22A5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 5 131,728,184
GRCh38 5 132,392,492
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_003051.1:p.Phe443Leu
NP_001295051.1:p.Phe467Leu
NM_003060.4:c.1327T>C
NM_003060.3:c.1327T>C
More... 		08/28/2018 missense variant uncertain significance Carnitine Deficiency, Systemic; Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine; Carnitine plasma-membrane transporter deficiency; Carnitine transporter deficiency; CARNITINE TRANSPORTER, PLASMA-MEMBRANE, DEFICIENCY OF; Carnitine uptake defect; Primary carnitine deficiency; Systemic primary carnitine deficiency disease
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC22A5
Accession:XM_047417595
Location:3UTRS;EXON

Gene Symbol:SLC22A5
Accession:XM_011543590
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 237
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQHLSWVWPSGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLIS
QGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTP
NLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAALSMV
YVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLR
VKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:SLC22A5
Accession:NM_001308122
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 467
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS
CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEQDSGAYNAMKNRMGKKPALCLPAQWNLVC
EDDWKAPLTISLFFVGVLLGSFISGQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFV
LGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVI
IRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNC
FLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAALSMVYVYTAELYPT
VVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTP
SHTRMLKDGQERPTILKSTAF*

Gene Symbol:SLC22A5
Accession:XM_017009778
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDW
RMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLR
TWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLF
MQLVPPDLYYLATVLVMVGKFGVTAALSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMG
SLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:SLC22A5
Accession:NM_003060
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 443
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRDYDEVTAFLGEWGPFQRLIFFLLSASIIPNGFTGLSSVFLIATPEHRCRVPDAANLSSAWRNHTVPLRLRDGREVPHS
CRRYRLATIANFSALGLEPGRDVDLGQLEQESCLDGWEFSQDVYLSTIVTEWNLVCEDDWKAPLTISLFFVGVLLGSFIS
GQLSDRFGRKNVLFVTMGMQTGFSFLQIFSKNFEMFVVLFVLVGMGQISNYVAAFVLGTEILGKSVRIIFSTLGVCIFYA
FGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWLISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQD
LSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLDTPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRR
YSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAALSMVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYF
VYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQMLRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:SLC22A5
Accession:XM_047417596
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWQHLSWVWPSGWRTEILGKSVRIIFSTLGVCIFYAFGYMVLPLFAYFIRDWRMLLVALTMPGVLCVALWWFIPESPRWL
ISQGRFEEAEVIIRKAAKANGIVVPSTIFDPSELQDLSSKKQQSHNILDLLRTWNIRMVTIMSIMLWMTISVGYFGLSLD
TPNLHGDIFVNCFLSAMVEVPAYVLAWLLLQYLPRRYSMATALFLGGSVLLFMQLVPPDLYYLATVLVMVGKFGVTAALS
MVYVYTAELYPTVVRNMGVGVSSTASRLGSILSPYFVYLGAYDRFLPYILMGSLTILTAILTLFLPESFGTPLPDTIDQM
LRVKGMKHRKTPSHTRMLKDGQERPTILKSTAF*

Gene Symbol:SLC22A5
Accession:XM_047417597
Location:INTRON

Gene Symbol:SLC22A5
Accession:XM_047417598
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000816075 CLINVAR
dbSNP (RS) rs1580894264 CLINVAR
MedGen C0342788 CLINVAR
NCBI Gene SLC22A5 CLINVAR
OMIM 212140 CLINVAR
  603377 CLINVAR
SNOMED CT 21764004 CLINVAR