RGD:156390905 Rat Genome Database

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Variant: RGD:156390905 -  Homo sapiens

RGD ID: 156390905
ClinVar ID: CV2383554
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AC002070.1  LOC127825286  TMEM233  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 120,031,780
GRCh38 12 119,593,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001136534.3:c.127G>A
NG_126799.1:g.314G>A
NC_000012.12:g.119593975G>A
NC_000012.11:g.120031780G>A
More... 		11/10/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TMEM233
Accession:NM_001136534
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQYAPSPDFKRALDSSPEANTEDDKTEEDVPMPKNYLWLTIISCFCPAYPINIVALVFSIMSLNSYNDGDYEGARRLGR
NAKWVAIASIIIGLLIIGISCAVHFTRNA*

Gene Symbol:TMEM233
Accession:XM_011538328
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQYAPSPDFKRALDSSPEANTEDDKTEEDVPMPKNYLWLTIISCFCPAYPINIVALVFSIMSLNSYNDGDYEGARRLGR
NAKWVAIASIIIGLLIIGISCAVHFTRKGAGKSDIRGVEA*

Gene Symbol:TMEM233
Accession:XM_011538330
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQYAPSPDFKRALDSSPEANTEDDKTEEDVPMPKNYLWLTIISCFCPAYPINIVALVFSIMSLNSYNDGDYEGARRLGR
NAKWVAIASIIIGLLIIGISCAVHFTRKSWHQDLILIRNN*

Gene Symbol:TMEM233
Accession:XM_011538329
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQYAPSPDFKRALDSSPEANTEDDKTEEDVPMPKNYLWLTIISCFCPAYPINIVALVFSIMSLNSYNDGDYEGARRLGR
NAKWVAIASIIIGLLIIGISCAVHFTRKGAGKSDIRGVEA*

Gene Symbol:TMEM233
Accession:XM_005253880
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQYAPSPDFKRALDSSPEANTEDDKTEEDVPMPKNYLWLTIISCFCPAYPINIVALVFSIMSLNSYNDGDYEGARRLGR
NAKWVAIASIIIGLLIIGISCAVHFTRKMANLMLAHEEEDGWRIHVNEPDYILKRRCKVLVNL*

Gene Symbol:TMEM233
Accession:XM_011538331
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQYAPSPDFKRALDSSPEANTEDDKTEEDVPMPKNYLWLTIISCFCPAYPINIVALVFSIMSLNSYNDGDYEGARRLGR
NAKWVAIASIIIGLLIIGISCAVHFTRNFPQWGM*

Gene Symbol:TMEM233
Accession:XM_005253881
Location:EXON
Amino Acid Prediction: V to I (nonsynonymous)
Amino Acid Position: 43
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSQYAPSPDFKRALDSSPEANTEDDKTEEDVPMPKNYLWLTIISCFCPAYPINIVALVFSIMSLNSYNDGDYEGARRLGR
NAKWVAIASIIIGLLIIGISCAVHFTRKGAGKSDIRGVEA*

Gene Symbol:AC002070.1
Accession:NR_188492
Location:INTRON;NON-CODING

Gene Symbol:AC002070.1
Accession:NR_188490
Location:INTRON;NON-CODING

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

Gene Symbol:AC002070.1
Accession:NR_188489
Location:INTRON;NON-CODING

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

Gene Symbol:AC002070.1
Accession:NR_188494
Location:INTRON;NON-CODING

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002724716 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene AC002070.1 CLINVAR
  TMEM233 CLINVAR
OMIM 618296 CLINVAR