RGD:152031860 Rat Genome Database

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Variant: RGD:152031860 -  Homo sapiens

RGD ID: 152031860
RS ID: rs762585
ClinVar ID: CV1548858
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HMBS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 118,962,153
GRCh38 11 119,091,443
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001258208.2:c.529C>T
LRG_1076:g.11567C>T
NG_008093.1:g.11567C>T
LRG_1076t1:c.529C>T
More...
11/26/2021 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:HMBS
Accession:NM_000190
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKE
LEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPH
LEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHD
PETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITA
RNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:NM_001024382
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS
LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:NM_001258209
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQA
TIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:NM_001258208
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATAEENSPKMRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKE
LEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPH
LEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTG
GVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDA
H*

Gene Symbol:HMBS
Accession:XM_005271533
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATALARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLK
DLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLD
EQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLE
GGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISL
ANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_005271532
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS
LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_005271531
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS
LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_011542796
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLKDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLE
TLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLDEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAV
GQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHLEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETM
QATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_017017629
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 160
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRVIRVGTRKSQLARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSL
KDLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKL
DEQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQGALGVEVRAKDQDILDLVGVLHDPETLLRCIAERAFLRHL
EGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQATIHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGIS
LANLLLSKGAKNILDVARQLNDAH*

Gene Symbol:HMBS
Accession:XM_024448460
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSGNGNAAATALARIQTDSVVATLKASYPGLQFEIIAMSTTGDKILDTALSKIGEKSLFTKELEHALEKNEVDLVVHSLK
DLPTVLPPGFTIGAICKRENPHDAVVFHPKFVGKTLETLPEKSVVGTSSLRRAAQLQRKFPHLEFRSIRGNLNTRLRKLD
EQQEFSAIILATAGLQRMGWHNRVGQILHPEECMYAVGQEGGCSVPVAVHTAMKDGQLYLTGGVWSLDGSDSIQETMQAT
IHVPAQHEDGPEDDPQLVGITARNIPRGPQLAAQNLGISLANLLLSKGAKNILDVARQLNDAH*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002086466 CLINVAR
dbSNP (RS) rs762585 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene HMBS CLINVAR
OMIM 609806 CLINVAR