RGD:11595540 Rat Genome Database

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Variant: RGD:11595540 -  Homo sapiens

RGD ID: 11595540
RS ID: rs757737775
ClinVar ID: CV280789
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC30A10  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 220,089,000
GRCh38 1 219,915,658
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000001.11:g.219915658G>C
NC_000001.10:g.220089000G>C
NP_061183.2:p.Pro417Ala
NG_032153.2:g.17994C>G
More...
01/13/2018 missense variant uncertain significance childhood <1 / 1 000 000 Cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease; Hepatic Cirrhosis, Dystonia, Polycythemia and Hypermanganesemia; Hypermanganesemia with dystonia 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC30A10
Accession:NM_018713
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 417
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRYSGKTCRLLFMLVLTVAFFVAELVSGYLGNSIALLSDSFNMLSDLISLCVGLSAGYIARRPTRGFSATYGYARAEVV
GALSNAVFLTALCFTIFVEAVLRLARPERIDDPELVLIVGVLGLLVNVVGLLIFQDCAAWFACCLRGRSRRLQQRQQLAE
GCVPGAFGGPQGAEDPRRAADPTAPGSDSAVTLRGTSVERKREKGATVFANVAGDSFNTQNEPEDMMKKEKKSEALNIRG
VLLHVMGDALGSVVVVITAIIFYVLPLKSEDPCNWQCYIDPSLTVLMVIIILSSAFPLIKETAAILLQMVPKGVNMEELM
SKLSAVPGISSVHEVHIWELVSGKIIATLHIKYPKDRGYQDASTKIREIFHHAGIHNVTIQFENVDLKEPLEQKDLLLLC
NSPCISKGCAKQLCCPAGALPLAHVNGCAEHNGGPSLDTYGSDGLSRRDAREVAIEVSLDSCLSDHGQSLNKTQEDQCYV
NRTHF*

Gene Symbol:SLC30A10
Accession:NM_001376929
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 354
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRYSGRSFRLILMCVVSILLFVMELVIAYVGNSLSLASDAFAVLSHFVSMIIGFFGVRASNIKQHKKSTYGFLRADVVG
AFGNTIFAVALMFSILVEAIKRYINPQKTEEPILVLSAGIIGLFFNVLNYVIFLDCCYCAAPKPQGDMEAGDSFNTQNEP
EDMMKKEKKSEALNIRGVLLHVMGDALGSVVVVITAIIFYVLPLKSEDPCNWQCYIDPSLTVLMVIIILSSAFPLIKETA
AILLQMVPKGVNMEELMSKLSAVPGISSVHEVHIWELVSGKIIATLHIKYPKDRGYQDASTKIREIFHHAGIHNVTIQFE
NVDLKEPLEQKDLLLLCNSPCISKGCAKQLCCPAGALPLAHVNGCAEHNGGPSLDTYGSDGLSRRDAREVAIEVSLDSCL
SDHGQSLNKTQEDQCYVNRTHF*

Gene Symbol:SLC30A10
Accession:NM_001416005
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMKKEKKSEALNIRGVLLHVMGDALGSVVVVITAIIFYVLPLKSEDPCNWQCYIDPSLTVLMVIIILSSAFPLIKETAAI
LLQMVPKGVNMEELMSKLSAVPGISSVHEVHIWELVSGKIIATLHIKYPKDRGYQDASTKIREIFHHAGIHNVTIQFENV
DLKEPLEQKDLLLLCNSPCISKGCAKQLCCPAGALPLAHVNGCAEHNGGPSLDTYGSDGLSRRDAREVAIEVSLDSCLSD
HGQSLNKTQEDQCYVNRTHF*

Gene Symbol:SLC30A10
Accession:NM_001416004
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMKKEKKSEALNIRGVLLHVMGDALGSVVVVITAIIFYVLPLKSEDPCNWQCYIDPSLTVLMVIIILSSAFPLIKETAAI
LLQMVPKGVNMEELMSKLSAVPGISSVHEVHIWELVSGKIIATLHIKYPKDRGYQDASTKIREIFHHAGIHNVTIQFENV
DLKEPLEQKDLLLLCNSPCISKGCAKQLCCPAGALPLAHVNGCAEHNGGPSLDTYGSDGLSRRDAREVAIEVSLDSCLSD
HGQSLNKTQEDQCYVNRTHF*

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000371792 CLINVAR
dbSNP (RS) rs757737775 CLINVAR
MedGen C2750442 CLINVAR
NCBI Gene SLC30A10 CLINVAR
OMIM 611146 CLINVAR
  613280 CLINVAR
SNOMED CT 702377007 CLINVAR