RGD:15166913 Rat Genome Database

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Variant: RGD:15166913 -  Homo sapiens

RGD ID: 15166913
RS ID: rs151158613
ClinVar ID: CV729238
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SCUBE1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 43,606,212
GRCh38 22 43,210,206
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_173050.5:c.2418C>T
NG_029056.3:g.138183C>T
NC_000022.11:g.43210206G>A
NC_000022.10:g.43606212G>A
More...
02/08/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:SCUBE1
Accession:NM_173050
Location:EXON
Amino Acid Prediction: T to T (synonymous)
Amino Acid Position: 806
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAAAVRWHLCVLLALGTRGRLAGGSGLPGSVDVDECSEGTDDCHIDAICQNTPKSYKCLCKPGYKGEGKQCEDIDECEN
DYYNGGCVHECINIPGNYRCTCFDGFMLAHDGHNCLDVDECQDNNGGCQQICVNAMGSYECQCHSGFFLSDNQHTCIHRS
NEGMNCMNKDHGCAHICRETPKGGVACDCRPGFDLAQNQKDCTLTCNYGNGGCQHSCEDTDTGPTCGCHQKYALHSDGRT
CIETCAVNNGGCDRTCKDTATGVRCSCPVGFTLQPDGKTCKDINECLVNNGGCDHFCRNTVGSFECGCRKGYKLLTDERT
CQDIDECSFERTCDHICINSPGSFQCLCHRGYILYGTTHCGDVDECSMSNGSCDQGCVNTKGSYECVCPPGRRLHWNGKD
CVETGKCLSRAKTSPRAQLSCSKAGGVESCFLSCPAHTLFVPDSENSYVLSCGVPGPQGKALQKRNGTSSGLGPSCSDAP
TTPIKQKARFKIRDAKCHLRPHSQARAKETARQPLLDHCHVTFVTLKCDSSKKRRRGRKSPSKEVSHITAEFEIETKMEE
ASDTCEADCLRKRAEQSLQAAIKTLRKSIGRQQFYVQVSGTEYEVAQRPAKALEGQGACGAGQVLQDSKCVACGPGTHFG
GELGQCVSCMPGTYQDMEGQLSCTPCPSSDGLGLPGARNVSECGGQCSPGFFSADGFKPCQACPVGTYQPEPGRTGCFPC
GGGLLTKHEGTTSFQDCEAKVHCSPGHHYNTTTHRCIRCPVGTYQPEFGQNHCITCPGNTSTDFDGSTNVTHCKNQHCGG
ELGDYTGYIESPNYPGDYPANAECVWHIAPPPKRRILIVVPEIFLPIEDECGDVLVMRKSASPTSITTYETCQTYERPIA
FTSRSRKLWIQFKSNEGNSGKGFQVPYVTYDEDYQQLIEDIVRDGRLYASENHQEILKDKKLIKALFDVLAHPQNYFKYT
AQESKEMFPRSFIKLLRSKVSRFLRPYK*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000882737 CLINVAR
dbSNP (RS) rs151158613 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SCUBE1 CLINVAR
OMIM 611746 CLINVAR