RGD:401732827 Rat Genome Database

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Variant: RGD:401732827 -  Homo sapiens

RGD ID: 401732827
ClinVar ID: CV2685345
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACSF3  LOC125177393  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 89,180,833
GRCh38 16 89,114,425
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_174917.3:c.1064A>G
NM_001284316.2:c.269A>G
NG_031961.1:g.25617A>G
NG_080450.2:g.559A>G
More... 		04/04/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ACSF3
Accession:NM_001284316
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 90
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAVCEEKIRLMVSGSAALPLPVLEKWKN
ITGHTLLERCGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACSYTIHAEGDERGTKVTPGFEEKEGEL
LVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTGGYKVSALEVEWHLLAHPSITDVAVI
GVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQMGKIDKKALIRHFHPS*

Gene Symbol:ACSF3
Accession:NM_001127214
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ
EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV
RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH
VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV
CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERCGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS
YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTG
GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQ
MGKIDKKALIRHFHPS*

Gene Symbol:ACSF3
Accession:NM_001243279
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ
EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV
RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH
VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV
CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERCGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS
YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTG
GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQ
MGKIDKKALIRHFHPS*

Gene Symbol:ACSF3
Accession:NM_174917
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 355
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLPHVVLTFRRLGCALASCRLAPARHRGSGLLHTAPVARSDRSAPVFTRALAFGDRIALVDQHGRHTYRELYSRSLRLSQ
EICRLCGCVGGDLREERVSFLCANDASYVVAQWASWMSGGVAVPLYRKHPAAQLEYVICDSQSSVVLASQEYLELLSPVV
RKLGVPLLPLTPAIYTGAVEEPAEVPVPEQGWRNKGAMIIYTSGTTGRPKGVLSTHQNIRAVVTGLVHKWAWTKDDVILH
VLPLHHVHGVVNALLCPLWVGATCVMMPEFSPQQVWEKFLSSETPRINVFMAVPTIYTKLMEYYDRHFTQPHAQDFLRAV
CEEKIRLMVSGSAALPLPVLEKWKNITGHTLLERCGMTEIGMALSGPLTTAVRLPGSVGTPLPGVQVRIVSENPQREACS
YTIHAEGDERGTKVTPGFEEKEGELLVRGPSVFREYWNKPEETKSAFTLDGWFKTGDTVVFKDGQYWIRGRTSVDIIKTG
GYKVSALEVEWHLLAHPSITDVAVIGVPDMTWGQRVTAVVTLREGHSLSHRELKEWARNVLAPYAVPSELVLVEEIPRNQ
MGKIDKKALIRHFHPS*

Gene Symbol:ACSF3
Accession:NR_147928
Location:EXON;NON-CODING

Gene Symbol:ACSF3
Accession:NR_104293
Location:EXON;NON-CODING

Gene Symbol:ACSF3
Accession:NR_045667
Location:INTRON;NON-CODING

Gene Symbol:ACSF3
Accession:NR_147929
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003249014 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ACSF3 CLINVAR
  LOC125177393 CLINVAR
OMIM 614245 CLINVAR