RGD:15100116 Rat Genome Database

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Variant: RGD:15100116 -  Homo sapiens

RGD ID: 15100116
RS ID: rs112235907
ClinVar ID: CV699292
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HEY2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 126,073,212
GRCh38 6 125,752,066
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.125752066T>G
NC_000006.11:g.126073212T>G
NM_012259.2:c.222T>G
NP_036391.1:p.Leu74=
More... 		05/15/2018 synonymous variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:HEY2
Accession:XM_017010628
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARKKRRGIIEKRRRDRINNSLSELRRLVPTAFEKQGSAKLEKAEILQMTVDHLKMLQATGGKGYFDAHALAMDFMSIGF
RECLTEVARYLSSVEGLDSSDPLRVRLVSHLSTCATQREAAAMTSSMAHHHHPLHPHHWAAAFHHLPAALLQPNGLHASE
STPCRLSTTSEVPPAHGSALLTATFAHADSALRMPSTGSVAPCVPPLSTSLLSLSATVHAAAAAATAAAHSFPLSFAGAF
PMLPPNAAAAVAAATAISPPLSVSATSSPQQTSSGTNNKPYRPWGTEVGAF*

Gene Symbol:HEY2
Accession:XM_017010627
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MARKKRRGIIEKRRRDRINNSLSELRRLVPTAFEKQGSAKLEKAEILQMTVDHLKMLQATGGKGYFDAHALAMDFMSIGF
RECLTEVARYLSSVEGLDSSDPLRVRLVSHLSTCATQREAAAMTSSMAHHHHPLHPHHWAAAFHHLPAALLQPNGLHASE
STPCRLSTTSEVPPAHGSALLTATFAHADSALRMPSTGSVAPCVPPLSTSLLSLSATVHAAAAAATAAAHSFPLSFAGAF
PMLPPNAAAAVAAATAISPPLSVSATSSPQQTSSGTNNKPYRPWGTEVGAF*

Gene Symbol:HEY2
Accession:NM_012259
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRPCEETTSESDMDETIDVGSENNYSGQSTSSVIRLNSPTTTSQIMARKKRRGIIEKRRRDRINNSLSELRRLVPTAFE
KQGSAKLEKAEILQMTVDHLKMLQATGGKGYFDAHALAMDFMSIGFRECLTEVARYLSSVEGLDSSDPLRVRLVSHLSTC
ATQREAAAMTSSMAHHHHPLHPHHWAAAFHHLPAALLQPNGLHASESTPCRLSTTSEVPPAHGSALLTATFAHADSALRM
PSTGSVAPCVPPLSTSLLSLSATVHAAAAAATAAAHSFPLSFAGAFPMLPPNAAAAVAAATAISPPLSVSATSSPQQTSS
GTNNKPYRPWGTEVGAF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000958864 CLINVAR
  RCV001796333 CLINVAR
dbSNP (RS) rs112235907 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene HEY2 CLINVAR
OMIM 604674 CLINVAR