RGD:126745897 Rat Genome Database

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Variant: RGD:126745897 -  Homo sapiens

RGD ID: 126745897
RS ID: rs747337202
ClinVar ID: CV976151
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC4A1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 42,328,568
GRCh38 17 44,251,200
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000342.4:c.2614G>A
LRG_803:g.21935G>A
NG_007498.1:g.21935G>A
NC_000017.11:g.44251200C>T
More... 		03/26/2022 missense variant 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; 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

Variant Details
Variant Transcripts
Gene Symbol:SLC4A1
Accession:NM_000342
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 872
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVELQELVMDEKNQELRWMEAAR
WVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLK
HSHAGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQP
VLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYMAQSRGELLHSLEGFLDCSLV
LPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDA
FSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCE
TNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKLIKIFQDHPLQKTYNYNVLMV
PKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGKLRRVIGDFGVPISILIMVLVDFFIQDTYTQKLSVPDGFKV
SNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFG
MPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVTSL
SGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVPLRRILLPLIFRN
VELQCLDADDAKATFDEEEGRDEYDEVAMPV*

Gene Symbol:SLC4A1
Accession:XM_005257593
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 807
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDEKNQELRWMEAARWVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQI
RPQDREELLRALLLKHSHAGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSE
ATLVLVGRADFLEQPVLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYMAQSRG
ELLHSLEGFLDCSLVLPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRD
IRRRYPYYLSDITDAFSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFS
GPLLVFEEAFFSFCETNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKLIKIFQ
DHPLQKTYNYNVLMVPKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGKLRRVIGDFGVPISILIMVLVDFFIQ
DTYTQKLSVPDGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALPALLVFILIFLESQITTLIVSKPERKMVKGSGFHLD
LLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGAAAQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPL
AVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKTWRMHLFTGIQIICLAVLWVVKSTPASLALPFVLIL
TVPLRRILLPLIFRNVELQCLDADDAKATFDEEEGRDEYDEVAMPV*

Gene Symbol:SLC4A1
Accession:XM_011525129
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 842
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEELQDDYEDMMEENLEQEEYEDPDIPESQMEEPAAHDTEATATDYHTTSHPGTHKVYVELQELVMDEKNQELRWMEAAR
WVQLEENLGENGAWGRPHLSHLTFWSLLELRRVFTKGTVLLDLQETSLAGVANQLLDRFIFEDQIRPQDREELLRALLLK
HSHAGELEALGGVKPAVLTRSGDPSQPLLPQHSSLETQLFCEQGDGGTEGHSPSGILEKIPPDSEATLVLVGRADFLEQP
VLGFVRLQEAAELEAVELPVPIRFLFVLLGPEAPHIDYTQLGRAAATLMSERVFRIDAYMAQSRGELLHSLEGFLDCSLV
LPPTDAPSEQALLSLVPVQRELLRRRYQSSPAKPDSSFYKGLDLNGGPDDPLQQTGQLFGGLVRDIRRRYPYYLSDITDA
FSPQVLAAVIFIYFAALSPAITFGGLLGEKTRNQMGVSELLISTAVQGILFALLGAQPLLVVGFSGPLLVFEEAFFSFCE
TNGLEYIVGRVWIGFWLILLVVLVVAFEGSFLVRFISRYTQEIFSFLISLIFIYETFSKLIKIFQDHPLQKTYNYNVLMV
PKPQGPLPNTALLSLVLMAGTFFFAMMLRKFKNSSYFPGKKLSVPDGFKVSNSSARGWVIHPLGLRSEFPIWMMFASALP
ALLVFILIFLESQITTLIVSKPERKMVKGSGFHLDLLLVVGMGGVAALFGMPWLSATTVRSVTHANALTVMGKASTPGAA
AQIQEVKEQRISGLLVAVLVGLSILMEPILSRIPLAVLFGIFLYMGVTSLSGIQLFDRILLLFKPPKYHPDVPYVKRVKT
WRMHLFTGIQIICLAVLWVVKSTPASLALPFVLILTVPLRRILLPLIFRNVELQCLDADDAKATFDEEEGRDEYDEVAMP
V*

Gene Symbol:SLC4A1
Accession:XM_011525130
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001328265 CLINVAR
  RCV002480885 CLINVAR
dbSNP (RS) rs747337202 CLINVAR
MedGen C0001126 CLINVAR
  C1832169 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