RGD:151839551 Rat Genome Database

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Variant: RGD:151839551 -  Homo sapiens

RGD ID: 151839551
RS ID: rs201611359
ClinVar ID: CV1368830
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC4A1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,337,263
GRCh38 17 44,259,895
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_803t1:c.523C>A
NM_000342.4:c.523C>A
LRG_803:g.13240C>A
NG_007498.1:g.13240C>A
More... 		12/22/2023 missense variant conflicting interpretations of pathogenicity|uncertain significance Autosomal dominant distal renal tubular acidosis; BLOOD GROUP, DIEGO SYSTEM; BLOOD GROUP--DIEGO SYSTEM; BLOOD GROUP--FROESE; BLOOD GROUP--WALDNER TYPE; BLOOD GROUP--WRIGHT ANTIGEN; Cryohydrocytosis; CRYOHYDROCYTOSIS DUE TO BAND 3 BLACKBURN; CRYOHYDROCYTOSIS DUE TO BAND 3 HEMEL; CRYOHYDROCYTOSIS DUE TO BAND 3 HURSTPIERPOINT; Elliptocytosis 4; FROESE BLOOD GROUP ANTIGEN; HE, STOMATOCYTIC; Hereditary cryohydrocytosis with normal stomatin; Hereditary spherocytosis type 4; Malaria, susceptibility to; none provided; Ovalocytosis, Malaysian-Melanesian-Filipino type; Pseudohyperkalemia Cardiff; Renal tubular acidosis 1; RENAL TUBULAR ACIDOSIS, DISTAL, 1; Renal tubular acidosis, distal, 4, with hemolytic anemia; Renal tubular acidosis, distal, with hemolytic anemia; Renal Tubular Acidosis, Type I; RTA, classic type; RTA, distal type, autosomal dominant; RTA, gradient type; SLC4A1-Related Spherocytosis; Southeast Asian ovalocytosis; Spherocytosis type 4; Stomatocytic elliptocytosis, hereditary; Stomatocytosis, cold-sensitive; SWANN BLOOD GROUP; WALDNER BLOOD GROUP ANTIGEN
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:SLC4A1
Accession:XM_005257593
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 110
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQI
RPQDREELLRALLLKHSHAGELEALGGVKTAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSE
ATLVLVGRADFLEQPVLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYMAQSRG
ELLHSLEGFLDCSLVLPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRD
IRRRYPYYLSDITDAFSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFS
GPLLVFEEAFFSFCETNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKLIKIFQ
DHPLQKTYNYNVLMVPKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGKLRRVIGDFGVPISILIMVLVDFFIQ
DTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLD
LLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPL
AVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLIL
TVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEGRDEYDEVAMPV*

Gene Symbol:SLC4A1
Accession:NM_000342
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVELQELVMDEKNQELRWMEAAR
WVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLK
HSHAGELEALGGVKTAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQP
VLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYMAQSRGELLHSLEGFLDCSLV
LPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDA
FSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCE
TNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKLIKIFQDHPLQKTYNYNVLMV
PKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGKLRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVPDGFKV
SNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFG
MPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVTSL
SGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRN
VELQCLDADDAKATFDEEEGRDEYDEVAMPV*

Gene Symbol:SLC4A1
Accession:XM_011525130
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVELQELVMDEKNQELRWMEAAR
WVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLK
HSHAGELEALGGVKTAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQP
VLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYMAQSRGELLHSLEGFLDCSLV
LPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDA
FSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCE
TNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKLIKIFQDHPLQKTYNYNVLMV
PKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGKLRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVPDGFKV
SNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFG
MPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVAPDRGLTPHWCQASGNLG*

Gene Symbol:SLC4A1
Accession:XM_011525129
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVELQELVMDEKNQELRWMEAAR
WVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLK
HSHAGELEALGGVKTAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQP
VLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYMAQSRGELLHSLEGFLDCSLV
LPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDA
FSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCE
TNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKLIKIFQDHPLQKTYNYNVLMV
PKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGKKLSVPDGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALP
ALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGAA
AQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKT
WRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVPLRRVLLPLIFRNVELQCLDADDAKATFDEEEGRDEYDEVAMP
V*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002015163 CLINVAR
  RCV002492295 CLINVAR
  RCV002625374 CLINVAR
dbSNP (RS) rs201611359 CLINVAR
MedGen C0950123 CLINVAR
  C1832169 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC4A1 CLINVAR
OMIM 109270 CLINVAR
  110500 CLINVAR
  112010 CLINVAR
  112050 CLINVAR
  166900 CLINVAR
  179800 CLINVAR
  185020 CLINVAR
  601550 CLINVAR
  601551 CLINVAR
  611162 CLINVAR
  611590 CLINVAR
  612653 CLINVAR