RGD:9693349 Rat Genome Database

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Variant: RGD:9693349 -  Homo sapiens

RGD ID: 9693349
RS ID: rs727504157
ClinVar ID: CV177111
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC17A5  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 74,363,567
GRCh38 6 73,653,844
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008272.1:g.5171G>T
NC_000006.12:g.73653844C>A
NC_000006.11:g.74363567C>A
NP_036566.1:p.Glu15*
More... 		10/08/2020 nonsense pathogenic|likely pathogenic Free Sialic Acid Storage Disorders; Infantile sialic acid storage disorder (ISSD); N-acetylneuraminic acid (NANA) storage disease (NSD); none provided; Sialuria, Finnish type
Disease Annotations     Click to see Annotation Detail View
sialuria  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SLC17A5
Accession:NM_001382629
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRARTARLFYRAPHGPKPGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAA
DLGVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIG
IFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMK
EILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLT
ISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLF
AKGEVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:NM_001382631
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGE*STDRTPLLPGAPRAEAAFEDTLRAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTT
LEDNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFT
PIAADLGVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFF
GTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLP
TYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAV
AFLTISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIF
FTLFAKGEVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:NM_001382636
Location:EXON
Amino Acid Prediction: R to S (nonsynonymous)
Amino Acid Position: 3
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASRARTARLFYRAPHGPKPGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAA
DLGVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYI
LSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSG
QAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPSYAGILL
GITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:NM_001382633
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGE*STDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEIL
RFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTIST
TLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDAGVQWRNLSSPQPLPPGFRRFSCLSLPNSW
DYRTLLENGKPCSILLLLLMFLVPFSLHYSPKVKYKTGLSMITMDTDTEGTNK*

Gene Symbol:SLC17A5
Accession:XM_047418630
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGE*STDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEIL
RFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMLVSSWASQIHLPLFQEWLGPSLLKV*

Gene Symbol:SLC17A5
Accession:NM_001382632
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGE*STDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSS
LRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAA
DNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPSYAGILLGIT
NTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:NM_001382635
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGE*STDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFWF
LLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILR
FNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTT
LGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGE
VQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:NM_001382630
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGE*STDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEIL
RFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTIST
TLGGFCSSGFSINHLDIAPSTLLENGKPCSILLLLLMFLVPFSLHYSPKVKYKTGLSMITMDTDTEGTNK*

Gene Symbol:SLC17A5
Accession:NM_012434
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGE*STDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEIL
RFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTIST
TLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKG
EVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:NM_001382634
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGE*STDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQNGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMI
GPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTV
GEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:XM_047418631
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:10581036   PMID:10947946   PMID:15172001   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000153957 CLINVAR
  RCV001264451 CLINVAR
dbSNP (RS) rs727504157 CLINVAR
MedGen C1096903 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC129996727 CLINVAR
  SLC17A5 CLINVAR
OMIM 604322 CLINVAR
  604369 CLINVAR
SNOMED CT 87074006 CLINVAR