RGD:401900093 Rat Genome Database

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Variant: RGD:401900093 -  Homo sapiens

RGD ID: 401900093
ClinVar ID: CV2780400
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124903701  SLC9A5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 67,298,364
GRCh38 16 67,264,461
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001323974.2:c.1067C>T
NM_001323975.2:c.1067C>T
NM_001323972.2:c.1649C>T
NM_001323971.2:c.1842+4515C>T
More... 		07/11/2023 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC9A5
Accession:NM_004594
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 651
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRAALSLLALPLAGAAEEPTQKPESPGEPPPGLELFRWQWHEVEAPYLVALWILVASLAKIVFHLSRKVTSLVPESCLL
ILLGLVLGGIVLAVAKKAEYQLEPGTFFLFLLPPIVLDSGYFMPSRLFFDNLGAILTYAVVGTLWNAFTTGAALWGLQQA
GLVAPRVQAGLLDFLLFGSLISAVDPVAVLAVFEEVHVNETLFIIVFGESLLNDAVTVVLYKVCNSFVEMGSANVQATDY
LKGVASLFVVSLGGAAVGLVFAFLLALTTRFTKRVRIIEPLLVFLLAYAAYLTAEMASLSAILAVTMCGLGCKKYVEANI
SHKSRTTVKYTMKTLASCAETVIFMLLGISAVDSSKWAWDSGLVLGTLIFILFFRALGVVLQTWVLNQFRLVPLDKIDQV
VMSYGGLRGAVAFALVILLDRTKVPAKDYFVATTIVVVFFTVIVQGLTIKPLVKWLKVKRSEHHKPTLNQELHEHTFDHI
LAAVEDVVGHHGYHYWRDRWEQFDKKYLSQLLMRRSAYRIRDQIWDVYYRLNIRDAISFVDQGGHVLSSTGLTLPSMPSR
NSVAETSVTNLLRESGSGACLDLQVIDTVRSGRDREDAVMHHLLCGGLYKPRRRYKASCSRHFISEDAQERQDKEVFQQN
MKRRLESFKSIKHNICFTKSKPRPRKTGRRKKDGVANAEATNGKHRGLGFQDTAAVILTVESEEEEEESDSSETEKEDDE
GIIFVARATSEVLQEGKVSGSLEVCPSPRIIPPSPTCAEKELPWKSGQGDLAVYVSSETTKIVPVDMQTGWNQSISSLES
LASPPCNQAPILTCLPPHPRGTEEPQVPLHLPSDPRSSFAFPPSLAKAGRSRSESSADLPQQQELQPLMGHKDHTHLSPG
TATSHWCIQFNRGSRL*

Gene Symbol:SLC9A5
Accession:NM_001323973
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 651
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRAALSLLALPLAGAAEEPTQKPESPGEPPPGLELFRWQWHEVEAPYLVALWILVASLAKIVFHLSRKVTSLVPESCLL
ILLGLVLGGIVLAVAKKAEYQLEPGTFFLFLLPPIVLDSGYFMPSRLFFDNLGAILTYAVVGTLWNAFTTGAALWGLQQA
GLVAPRVQAGLLDFLLFGSLISAVDPVAVLAVFEEVHVNETLFIIVFGESLLNDAVTVVLYKVCNSFVEMGSANVQATDY
LKGVASLFVVSLGGAAVGLVFAFLLALTTRFTKRVRIIEPLLVFLLAYAAYLTAEMASLSAILAVTMCGLGCKKYVEANI
SHKSRTTVKYTMKTLASCAETVIFMLLGISAVDSSKWAWDSGLVLGTLIFILFFRALGVVLQTWVLNQFRLVPLDKIDQV
VMSYGGLRGAVAFALVILLDRTKVPAKDYFVATTIVVVFFTVIVQGLTIKPLVKWLKVKRSEHHKPTLNQELHEHTFDHI
LAAVEDVVGHHGYHYWRDRWEQFDKKYLSQLLMRRSAYRIRDQIWDVYYRLNIRDAISFVDQGGHVLSSTGLTLPSMPSR
NSVAETSVTNLLRESGSGACLDLQVIDTVRSGRDREDAVMHHLLCGGLYKPRRRYKASCSRHFISEDAQERQDKEVFQQN
MKRRLESFKSIKHNICFTKSKPRPRKTGRRKDGVANAEATNGKHRGLGFQDTAAVILTVESEEEEEESDSSETEKEDDEG
IIFVARATSEVLQEGKVSGSLEVCPSPRIIPPSPTCAEKELPWKSGQGDLAVYVSSETTKIVPVDMQTGWNQSISSLESL
ASPPCNQAPILTCLPPHPRGTEEPQVPLHLPSDPRSSFAFPPSLAKAGRSRSESSADLPQQQELQPLMGHKDHTHLSPGT
ATSHWCIQFNRGSRL*

Gene Symbol:SLC9A5
Accession:NM_001323975
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLSAILAVTMCGLGCKKYVEANISHKSRTTVKYTMKTLASCAETVIFMLLGISAVDSSKWAWDSGLVLGTLIFILFFR
ALGVVLQTWVLNQFRLVPLDKIDQVVMSYGGLRGAVAFALVILLDRTKVPAKDYFVATTIVVVFFTVIVQGLTIKPLVKW
LKVKRSEHHKPTLNQELHEHTFDHILAAVEDVVGHHGYHYWRDRWEQFDKKYLSQLLMRRSAYRIRDQIWDVYYRLNIRD
AISFVDQGGHVLSSTGLTLPSMPSRNSVAETSVTNLLRESGSGACLDLQVIDTVRSGRDREDAVMHHLLCGGLYKPRRRY
KASCSRHFISEDAQERQDKEVFQQNMKRRLESFKSIKHNICFTKSKPRPRKTGRRKKDGVANAEATNGKHRGLGFQDTAA
VILTVESEEEEEESDSSETEKEDDEGIIFVARATSEVLQEGKVSGSLEVCPSPRIIPPSPTCAEKELPWKSGQGDLAVYV
SSETTKIVPVDMQTGWNQSISSLESLASPPCNQAPILTCLPPHPRGTEEPQVPLHLPSDPRSSFAFPPSLAKAGRSRSES
SADLPQQQELQPLMGHKDHTHLSPGTATSHWCIQFNRGSRL*

Gene Symbol:SLC9A5
Accession:NM_001323974
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 356
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASLSAILAVTMCGLGCKKYVEANISHKSRTTVKYTMKTLASCAETVIFMLLGISAVDSSKWAWDSGLVLGTLIFILFFR
ALGVVLQTWVLNQFRLVPLDKIDQVVMSYGGLRGAVAFALVILLDRTKVPAKDYFVATTIVVVFFTVIVQGLTIKPLVKW
LKVKRSEHHKPTLNQELHEHTFDHILAAVEDVVGHHGYHYWRDRWEQFDKKYLSQLLMRRSAYRIRDQIWDVYYRLNIRD
AISFVDQGGHVLSSTGLTLPSMPSRNSVAETSVTNLLRESGSGACLDLQVIDTVRSGRDREDAVMHHLLCGGLYKPRRRY
KASCSRHFISEDAQERQDKEVFQQNMKRRLESFKSIKHNICFTKSKPRPRKTGRRKDGVANAEATNGKHRGLGFQDTAAV
ILTVESEEEEEESDSSETEKEDDEGIIFVARATSEVLQEGKVSGSLEVCPSPRIIPPSPTCAEKELPWKSGQGDLAVYVS
SETTKIVPVDMQTGWNQSISSLESLASPPCNQAPILTCLPPHPRGTEEPQVPLHLPSDPRSSFAFPPSLAKAGRSRSESS
ADLPQQQELQPLMGHKDHTHLSPGTATSHWCIQFNRGSRL*

Gene Symbol:SLC9A5
Accession:NM_001323972
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 550
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLRAALSLLALPLAGAAEEPTQKPESPGEPPPGLELFRWQWHEVEAPYLVALWILVASLAKIAPRVQAGLLDFLLFGSLI
SAVDPVAVLAVFEEVHVNETLFIIVFGESLLNDAVTVVLYKVCNSFVEMGSANVQATDYLKGVASLFVVSLGGAAVGLVF
AFLLALTTRFTKRVRIIEPLLVFLLAYAAYLTAEMASLSAILAVTMCGLGCKKYVEANISHKSRTTVKYTMKTLASCAET
VIFMLLGISAVDSSKWAWDSGLVLGTLIFILFFRALGVVLQTWVLNQFRLVPLDKIDQVVMSYGGLRGAVAFALVILLDR
TKVPAKDYFVATTIVVVFFTVIVQGLTIKPLVKWLKVKRSEHHKPTLNQELHEHTFDHILAAVEDVVGHHGYHYWRDRWE
QFDKKYLSQLLMRRSAYRIRDQIWDVYYRLNIRDAISFVDQGGHVLSSTGLTLPSMPSRNSVAETSVTNLLRESGSGACL
DLQVIDTVRSGRDREDAVMHHLLCGGLYKPRRRYKASCSRHFISEDAQERQDKEVFQQNMKRRLESFKSIKHNICFTKSK
PRPRKTGRRKKDGVANAEATNGKHRGLGFQDTAAVILTVESEEEEEESDSSETEKEDDEGIIFVARATSEVLQEGKVSGS
LEVCPSPRIIPPSPTCAEKELPWKSGQGDLAVYVSSETTKIVPVDMQTGWNQSISSLESLASPPCNQAPILTCLPPHPRG
TEEPQVPLHLPSDPRSSFAFPPSLAKAGRSRSESSADLPQQQELQPLMGHKDHTHLSPGTATSHWCIQFNRGSRL*

Gene Symbol:SLC9A5
Accession:NR_136665
Location:EXON;NON-CODING

Gene Symbol:SLC9A5
Accession:NR_136664
Location:EXON;NON-CODING

Gene Symbol:SLC9A5
Accession:NR_136666
Location:EXON;NON-CODING

Gene Symbol:LOC124903701
Accession:XR_007065092
Location:EXON;NON-CODING

Gene Symbol:SLC9A5
Accession:NM_001323971
Location:INTRON

Gene Symbol:SLC9A5
Accession:XM_017023594
Location:INTRON

Gene Symbol:SLC9A5
Accession:XM_047434520
Location:INTRON

Gene Symbol:SLC9A5
Accession:XM_047434519
Location:INTRON

Gene Symbol:SLC9A5
Accession:XM_047434521
Location:INTRON

Gene Symbol:SLC9A5
Accession:NR_136667
Location:INTRON;NON-CODING

Gene Symbol:LOC124903701
Accession:XR_007065091
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003378442 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene SLC9A5 CLINVAR
OMIM 600477 CLINVAR