RGD:11590601 Rat Genome Database

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Variant: RGD:11590601 -  Homo sapiens

RGD ID: 11590601
RS ID: rs1062677
ClinVar ID: CV295583
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC4A4  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 72,433,545
GRCh38 4 71,567,828
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012653.1:g.385543A>C
NC_000004.12:g.71567828A>C
NC_000004.11:g.72433545A>C
NP_001128214.1:p.Ile1074Leu
More... 		05/16/2021 3 prime utr variant benign none provided; RENAL TUBULAR ACIDOSIS, PROXIMAL, WITH OCULAR ABNORMALITIES AND IMPAIRED INTELLECTUAL DEVELOPMENT; RTA, PROXIMAL, AUTOSOMAL RECESSIVE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC4A4
Accession:XM_024454269
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454267
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_047416348
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454270
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454271
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:NM_001098484
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_017008792
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454272
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_024454268
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:NM_003759
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_017008793
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:XM_011532390
Location:3UTRS;EXON

Gene Symbol:SLC4A4
Accession:NM_001134742
Location:EXON
Amino Acid Prediction: I to L (nonsynonymous)
Amino Acid Position: 1074
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEAVLDRGASFLKHVCDEEEVEGHHTIYIGVHVPKSYRRRRRHKRKTGHKEKKEKERISENYSDKSDIENADESSSSI
LKPLISPAAERIRFILGEEDDSPAPPQLFTELDELLAVDGQEMEWKETARWIKFEEKVEQGGERWSKPHVATLSLHSLFE
LRTCMEKGSIMLDREASSLPQLVEMIVDHQIETGLLKPELKDKVTYTLLRKHRHQTKKSNLRSLADIGKTVSSASRMFTN
PDNGSPAMTHRNLTSSSLNDISDKPEKDQLKNKFMKKLPRDAEASNVLVGEVDFLDTPFIAFVRLQQAVMLGALTEVPVP
TRFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKAKDRHDLIAGIDEFLDEVIVLPPGEWDPAIRIEPPKSLPSS
DKRKNMYSGGENVQMNGDTPHDGGHGGGGHGDCEELQRTGRFCGGLIKDIKRKAPFFASDFYDALNIQALSAILFIYLAT
VTNAITFGGLLGDATDNMQGVLESFLGTAVSGAIFCLFAGQPLTILSSTGPVLVFERLLFNFSKDNNFDYLEFRLWIGLW
SAFLCLILVATDASFLVQYFTRFTEEGFSSLISFIFIYDAFKKMIKLADYYPINSNFKVGYNTLFSCTCVPPDPANISIS
NDTTLAPEYLPTMSSTDMYHNTTFDWAFLSKKECSKYGGNLVGNNCNFVPDITLMSFILFLGTYTSSMALKKFKTSPYFP
TTARKLISDFAIILSILIFCVIDALVGVDTPKLIVPSEFKPTSPNRGWFVPPFGENPWWVCLAAAIPALLVTILIFMDQQ
ITAVIVNRKEHKLKKGAGYHLDLFWVAILMVICSLMALPWYVAATVISIAHIDSLKMETETSAPGEQPKFLGVREQRVTG
TLVFILTGLSVFMAPILKFIPMPVLYGVFLYMGVASLNGVQFMDRLKLLLMPLKHQPDFIYLRHVPLRRVHLFTFLQVLC
LALLWILKSTVAAIIFPVMILALVAVRKGMDYLFSQHDLSFLDDVIPEKDKKKKEDEKKKKKKKGSLDSDNDDEKDHQHS
LNATHHADKIPFLQSLGMPSPPRTPVKVVPQIRLELEPEDNDYFWRSKGTETTL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000320596 CLINVAR
  RCV001597113 CLINVAR
dbSNP (RS) rs1062677 CLINVAR
MedGen C1970309 CLINVAR
  C3661900 CLINVAR
NCBI Gene SLC4A4 CLINVAR
OMIM 603345 CLINVAR
  604278 CLINVAR