rs149492644 Rat Genome Database

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Variant: rs149492644 -  Homo sapiens

RGD ID: 15187435
RS ID: rs149492644
ClinVar ID: CV727738
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SMAD7  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 46,447,937
GRCh38 18 48,921,567
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001190821.2:c.1083C>T
NP_005895.1:p.Pro362=
NM_005904.4:c.1086C>T
NM_001190823.2:c.522C>T
More... 		04/26/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SMAD7
Accession:NM_005904
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRTKRSALVRRLWRSRAPGGEDEEEGAGGGGGGGELRGEGATDSRAHGAGGGGPGRAGCCLGKAVRGAKGHHHPHPPAA
GAGAAGGAEADLKALTHSVLKKLKERQLELLLQAVESRGGTRTACLLLPGRLDCRLGPGAPAGAQPAQPPSSYSLPLLLC
KVFRWPDLRHSSEVKRLCCCESYGKINPELVCCNPHHLSRLCELESPPPPYSRYPMDFLKPTADCPDAVPSSAETGGTNY
LAPGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQLNSDNKSQLVQKVRSKIGCG
IQLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEKAYSLQRPNDHEFMQQPWTGFTVQISFV
KGWGQCYTRQFISSCPCWLEVIFNSR*

Gene Symbol:SMAD7
Accession:NM_001190822
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 147
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFLKPTADCPDAVPSSAETGGTNYLAPGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNG
FCLGQLNSDNKSQLVQKVRSKIGCGIQLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEKAY
SLQRPNDHEFMQQPWTGFTVQISFVKGWGQCYTRQFISSCPCWLEVIFNSR*

Gene Symbol:SMAD7
Accession:NM_001190823
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 174
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MCGLSFMLFRACLKMDLGVFICVFISFSPLFKSTADCPDAVPSSAETGGTNYLAPGGLSDSQLLLEPGDRSHWCVVAYWE
EKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQLNSDNKSQLVQKVRSKIGCGIQLTREVDGVWVYNRSSYPIFIKSATLD
NPDSRTLLVHKVFPGFSIKAFDYEKAYSLQRPNDHEFMQQPWTGFTVQISFVKGWGQCYTRQFISSCPCWLEVIFNSR*

Gene Symbol:SMAD7
Accession:XM_047437509
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDFLKPTDCPDAVPSSAETGGTNYLAPGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGF
CLGQLNSDNKSQLVQKVRSKIGCGIQLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEKAYS
LQRPNDHEFMQQPWTGFTVQISFVKGWGQCYTRQFISSCPCWLEVIFNSR*

Gene Symbol:SMAD7
Accession:NM_001190821
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFRTKRSALVRRLWRSRAPGGEDEEEGAGGGGGGGELRGEGATDSRAHGAGGGGPGRAGCCLGKAVRGAKGHHHPHPPAA
GAGAAGGAEADLKALTHSVLKKLKERQLELLLQAVESRGGTRTACLLLPGRLDCRLGPGAPAGAQPAQPPSSYSLPLLLC
KVFRWPDLRHSSEVKRLCCCESYGKINPELVCCNPHHLSRLCELESPPPPYSRYPMDFLKPTDCPDAVPSSAETGGTNYL
APGGLSDSQLLLEPGDRSHWCVVAYWEEKTRVGRLYCVQEPSLDIFYDLPQGNGFCLGQLNSDNKSQLVQKVRSKIGCGI
QLTREVDGVWVYNRSSYPIFIKSATLDNPDSRTLLVHKVFPGFSIKAFDYEKAYSLQRPNDHEFMQQPWTGFTVQISFVK
GWGQCYTRQFISSCPCWLEVIFNSR*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000887255 CLINVAR
dbSNP (RS) rs149492644 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SMAD7 CLINVAR
OMIM 602932 CLINVAR