RGD:8629234 Rat Genome Database

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Variant: RGD:8629234 -  Homo sapiens

RGD ID: 8629234
RS ID: rs267598310
ClinVar ID: CV84379
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TMEM183A  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 202,992,070
GRCh38 1 203,022,942
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.9:g.201258693C>T
NM_138391.4:c.1033C>T
NC_000001.11:g.203022942C>T
NC_000001.10:g.202992070C>T
More... 		07/13/2022 missense|missense variant uncertain significance|not provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM183A
Accession:NM_138391
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPGPLGRPRPDTVAMPKRGKRLKFRAHDACSGRVTVADYANSDPAVVRSGRVKKAVANAVQQEVKSLCGLEASQVPA
EEALSGAGEPCDIIDSSDEMDAQEESIHERTVSRKKKSKRHKEELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNA
WTVTCTAAFWTRLYRRHYTLDASLPLRLRPESMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLF
WCRKIVGNRQEPMWEFNFKFKKQSPRLKSKCTGGLQPPVQYEDVHTNPDQDCCLLQVTTLNFIFIPIVMGMIFTLFTINV
STDMRHHRVRLVFQDSPVHGGRKLCSEQGVQVILDPVHSVRLFDWWHPQYPFSLRA*

Gene Symbol:TMEM183A
Accession:NM_001322955
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 341
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPGPLGRPRPDTVAMPKRGKRLKFRAHDACSGRVTVADYANSDPAVVRSGRVKKAVANAVQQEVKSLCGLEASQVPA
EEALSGAGEPCDIIDSSDEMDAQEESIHERTVSRKKKSKRHKELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNAW
TVTCTAAFWTRLYRRHYTLDASLPLRLRPESMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLFW
CRKIVGNRQEPMWEFNFKFKKQVKEQVYRRIAASRSVRRCSYQSRPGLLPTAGHHPQFHLYSDCHGNDIYSVYYQCEHGH
AASSSETGVPRFPCPWWSETVQ*

Gene Symbol:TMEM183A
Accession:NM_001349862
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 245
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAQEESIHERTVSRKKKSKRHKELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNAWTVTCTAAFWTRLYRRHYTL
DASLPLRLRPESMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLFWCRKIVGNRQEPMWEFNFKF
KKQSPRLKSKCTGGLQPPVQYEDVHTNPDQDCCLLQVTTLNFIFIPIVMGMIFTLFTINVSTDMRHHRVRLVFQDSPVHG
GRKLCSEQGVQVILDPVHSVRLFDWWHPQYPFSLRA*

Gene Symbol:TMEM183A
Accession:NM_001322957
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 342
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPGPLGRPRPDTVAMPKRGKRLKFRAHDACSGRVTVADYANSDPAVVRSGRVKKAVANAVQQEVKSLCGLEASQVPA
EEALSGAGEPCDIIDSSDEMDAQEESIHERTVSRKKKSKRHKEELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNA
WTVTCTAAFWTRLYRRHYTLDASLPLRLRPESMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLF
WCRKIVGNRQEPMWEFNFKFKKQVKEQVYRRIAASRSVRRCSYQSRPGLLPTAGHHPQFHLYSDCHGNDIYSVYYQCEHG
HAASSSETGVPRFPCPWWSETVQ*

Gene Symbol:TMEM183A
Accession:NM_001349859
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 246
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDAQEESIHERTVSRKKKSKRHKEELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNAWTVTCTAAFWTRLYRRHYT
LDASLPLRLRPESMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLFWCRKIVGNRQEPMWEFNFK
FKKQSPRLKSKCTGGLQPPVQYEDVHTNPDQDCCLLQVTTLNFIFIPIVMGMIFTLFTINVSTDMRHHRVRLVFQDSPVH
GGRKLCSEQGVQVILDPVHSVRLFDWWHPQYPFSLRA*

Gene Symbol:TMEM183A
Accession:NM_001322958
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 315
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPGPLGRPRPDTVAMPKRGKRLKFRAHDACSGRVKSLCGLEASQVPAEEALSGAGEPCDIIDSSDEMDAQEESIHER
TVSRKKKSKRHKEELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNAWTVTCTAAFWTRLYRRHYTLDASLPLRLRP
ESMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLFWCRKIVGNRQEPMWEFNFKFKKQSPRLKSK
CTGGLQPPVQYEDVHTNPDQDCCLLQVTTLNFIFIPIVMGMIFTLFTINVSTDMRHHRVRLVFQDSPVHGGRKLCSEQGV
QVILDPVHSVRLFDWWHPQYPFSLRA*

Gene Symbol:TMEM183A
Accession:NM_001322956
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 344
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPGPLGRPRPDTVAMPKRGKRLKFRAHDACSGRVTVADYANSDPAVVRSGRVKKAVANAVQQEVKSLCGLEASQVPA
EEALSGAGEPCDIIDSSDEMDAQEESIHERTVSRKKKSKRHKELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNAW
TVTCTAAFWTRLYRRHYTLDASLPLRLRPESMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLFW
CRKIVGNRQEPMWEFNFKFKKQSPRLKSKCTGGLQPPVQYEDVHTNPDQDCCLLQVTTLNFIFIPIVMGMIFTLFTINVS
TDMRHHRVRLVFQDSPVHGGRKLCSEQGVQVILDPVHSVRLFDWWHPQYPFSLRA*

Gene Symbol:TMEM183A
Accession:NM_001322959
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARGPGPLGRPRPDTVAMPKRGKRLKFRAHDACSGRVKSLCGLEASQVPAEEALSGAGEPCDIIDSSDEMDAQEESIHER
TVSRKKKSKRHKELDGAGGEEYPMDIWLLLASYIRPEDIVNFSLICKNAWTVTCTAAFWTRLYRRHYTLDASLPLRLRPE
SMEKLRCLRACVIRSLYHMYEPFAARISKNPAIPESTPSTLKNSKCLLFWCRKIVGNRQEPMWEFNFKFKKQSPRLKSKC
TGGLQPPVQYEDVHTNPDQDCCLLQVTTLNFIFIPIVMGMIFTLFTINVSTDMRHHRVRLVFQDSPVHGGRKLCSEQGVQ
VILDPVHSVRLFDWWHPQYPFSLRA*

Gene Symbol:TMEM183A
Accession:NR_146286
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_136530
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_136533
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_136532
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_136531
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_146288
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_146287
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_146285
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_146289
Location:EXON;NON-CODING

Gene Symbol:TMEM183A
Accession:NR_136534
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003006919 CLINVAR
dbSNP (RS) rs267598310 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene TMEM183A CLINVAR