RGD:15155440 Rat Genome Database

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Variant: RGD:15155440 -  Homo sapiens

RGD ID: 15155440
RS ID: rs192599733
ClinVar ID: CV735766
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC17A5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 74,304,923
GRCh38 6 73,595,200
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012434.5:c.1365A>G
NG_008272.1:g.63815A>G
NC_000006.12:g.73595200T>C
NC_000006.11:g.74304923T>C
More... 		11/07/2018 synonymous variant likely benign Free Sialic Acid Storage Disorders; Infantile sialic acid storage disorder (ISSD); N-acetylneuraminic acid (NANA) storage disease (NSD); Sialuria, Finnish type
Disease Annotations     Click to see Annotation Detail View
sialuria  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:SLC17A5
Accession:NM_001382635
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 454
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFWF
LLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILR
FNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTT
LGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGE
VQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:NM_001382634
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 402
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQNGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMI
GPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTV
GEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:NM_001382629
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 378
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARRARTARLFYRAPHGPKPGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAA
DLGVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIG
IFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMK
EILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLT
ISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLF
AKGEVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:NM_001382636
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 349
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARRARTARLFYRAPHGPKPGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAA
DLGVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYI
LSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSG
QAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPSYAGILL
GITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:NM_001382632
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 426
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSS
LRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAA
DNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPSYAGILLGIT
NTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:NM_001382631
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 462
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAFEDTLRAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTT
LEDNRTSKACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFT
PIAADLGVGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFF
GTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLP
TYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAV
AFLTISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIF
FTLFAKGEVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:XM_047418631
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 324
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGCRNSRMDSRFLFLWLHHHTDSWRICCQQNRGENAARIWDPWHCCPHPVHSHCCRFRSWTTHCTQSTRRTRRGAQLGTV
ISLPLSGIICYYMNWTYVFYFFGTIGIFWFLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPL
WAIVVAHFSYNWTFYTLLTLLPTYMKEILRFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIG
MIGPAVFLVAAGFIGCDYSLAVAFLTISTTLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDN
TVGEWQTVFYIAAAINVFGAIFFTLFAKGEVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:NM_001382633
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 488
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEIL
RFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTIST
TLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDAGVQWRNLSSPQPLPPGFRRFSCLSLPNSW
DYRTLLESGKPCSILLLLLMFLVPFSLHYSPKVKYKTGLSMITMDTDTEGTNK*

Gene Symbol:SLC17A5
Accession:NM_001382630
Location:EXON
Amino Acid Prediction: N to S (nonsynonymous)
Amino Acid Position: 425
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEIL
RFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTIST
TLGGFCSSGFSINHLDIAPSTLLESGKPCSILLLLLMFLVPFSLHYSPKVKYKTGLSMITMDTDTEGTNK*

Gene Symbol:SLC17A5
Accession:NM_012434
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 455
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSPVRDLARNDGEESTDRTPLLPGAPRAEAAPVCCSARYNLAILAFFGFFIVYALRVNLSVALVDMVDSNTTLEDNRTS
KACPEHSAPIKVHHNQTGKKYQWDAETQGWILGSFFYGYIITQIPGGYVASKIGGKMLLGFGILGTAVLTLFTPIAADLG
VGPLIVLRALEGLGEGVTFPAMHAMWSSWAPPLERSKLLSISYAGAQLGTVISLPLSGIICYYMNWTYVFYFFGTIGIFW
FLLWIWLVSDTPQKHKRISHYEKEYILSSLRNQLSSQKSVPWVPILKSLPLWAIVVAHFSYNWTFYTLLTLLPTYMKEIL
RFNVQENGFLSSLPYLGSWLCMILSGQAADNLRAKWNFSTLCVRRIFSLIGMIGPAVFLVAAGFIGCDYSLAVAFLTIST
TLGGFCSSGFSINHLDIAPSYAGILLGITNTFATIPGMVGPVIAKSLTPDNTVGEWQTVFYIAAAINVFGAIFFTLFAKG
EVQNWALNDHHGHRH*

Gene Symbol:SLC17A5
Accession:XM_047418630
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000902141 CLINVAR
dbSNP (RS) rs192599733 CLINVAR
MedGen C1096903 CLINVAR
NCBI Gene SLC17A5 CLINVAR
OMIM 604322 CLINVAR
  604369 CLINVAR
SNOMED CT 87074006 CLINVAR