RGD:8657785 Rat Genome Database

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Variant: RGD:8657785 -  Homo sapiens

RGD ID: 8657785
ClinVar ID: CV86651
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PCDHG@  PCDHGA1  PCDHGA2  PCDHGA3  PCDHGA4  PCDHGA5  PCDHGB1  PCDHGB2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 5 140,746,234
GRCh38 5 141,366,667
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000005.8:g.140726418C>T
NM_018918.2:c.2337C>T
NM_032054.1:c.2337C>T
NM_018922.2:c.2409+13998C>T
More...
intron|intron variant|synonymous variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:PCDHGA5
Accession:NM_018918
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 779
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPPRGWGCGELLLPFMLLGTLCEPGSGQIRYSMPEELDKGSFVGNIAKDLGLEPQELAERGVRIVSRGRTQLFALNPR
SGSLVTAGRIDREELCAQSPLCVVNFNILVENKMKIYGVEVEIIDINDNFPRFRDEELKVKVNENAAAGTRLVLPFARDA
DVGVNSLRSYQLSSNLHFSLDVVSGTDGQKYPELVLEQPLDREKETVHDLLLTALDGGDPVLSGTTHIRVTVLDANDNAP
LFTPSEYSVSVPENIPVGTRLLMLTATDPDEGINGKLTYSFRNEEEKISETFQLDSNLGEISTLQSLDYEESRFYLMEVV
AQDGGALVASAKVVVTVQDVNDNAPEVILTSLTSSISEDCLPGTVIALFSVHDGDSGENGEIACSIPRNLPFKLEKSVDN
YYHLLTTRDLDREETSDYNITLTVMDHGTPPLSTESHIPLKVADVNDNPPNFPQASYSTSVTENNPRGVSIFSVTAHDPD
SGDNARVTYSLAEDTFQGAPLSSYVSINSDTGVLYALRSFDYEQLRDLQLWVTASDSGNPPLSSNVSLSLFVLDQNDNTP
EILYPALPTDGSTGVELAPRSAEPGYLVTKVVAVDKDSGQNAWLSYRLLKASEPGLFAVGLHTGEVRTARALLDRDALKQ
SLVVAVEDHGQPPLSATFTVTVAVADRIPDILADLGSIKTPIDPEDLDLTLYLVVAVAAVSCVFLAFVIVLLVLRLRRWH
KSRLLQAEGSRLAGVPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDAN
KEERRVQQAPPNTDWRFSQAQRPGTSGSQNGDDTGTWPNNQFDTEMLQAMILASASEAADGSSTLGGGAGTMGLSARYGP
QFTLQHVPDYRQNVYIPGSNATLTNAAGKRDGKAPAGGNGNKKKSGKKEKK*

Gene Symbol:PCDHGA5
Accession:NM_032054
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 779
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPPRGWGCGELLLPFMLLGTLCEPGSGQIRYSMPEELDKGSFVGNIAKDLGLEPQELAERGVRIVSRGRTQLFALNPR
SGSLVTAGRIDREELCAQSPLCVVNFNILVENKMKIYGVEVEIIDINDNFPRFRDEELKVKVNENAAAGTRLVLPFARDA
DVGVNSLRSYQLSSNLHFSLDVVSGTDGQKYPELVLEQPLDREKETVHDLLLTALDGGDPVLSGTTHIRVTVLDANDNAP
LFTPSEYSVSVPENIPVGTRLLMLTATDPDEGINGKLTYSFRNEEEKISETFQLDSNLGEISTLQSLDYEESRFYLMEVV
AQDGGALVASAKVVVTVQDVNDNAPEVILTSLTSSISEDCLPGTVIALFSVHDGDSGENGEIACSIPRNLPFKLEKSVDN
YYHLLTTRDLDREETSDYNITLTVMDHGTPPLSTESHIPLKVADVNDNPPNFPQASYSTSVTENNPRGVSIFSVTAHDPD
SGDNARVTYSLAEDTFQGAPLSSYVSINSDTGVLYALRSFDYEQLRDLQLWVTASDSGNPPLSSNVSLSLFVLDQNDNTP
EILYPALPTDGSTGVELAPRSAEPGYLVTKVVAVDKDSGQNAWLSYRLLKASEPGLFAVGLHTGEVRTARALLDRDALKQ
SLVVAVEDHGQPPLSATFTVTVAVADRIPDILADLGSIKTPIDPEDLDLTLYLVVAVAAVSCVFLAFVIVLLVLRLRRWH
KSRLLQAEGSRLAGVPASHFVGVDGVRAFLQTYSHEVSLTADSRKSHLIFPQPNYADTLLSEESCEKSEPLLMSDKVDAN
KEERRVQVSFLFR*

Gene Symbol:PCDHGA2
Accession:NM_018915
Location:INTRON

Gene Symbol:PCDHGA2
Accession:NM_032009
Location:INTRON

Gene Symbol:PCDHGA3
Accession:NM_018916
Location:INTRON

Gene Symbol:PCDHGA3
Accession:NM_032011
Location:INTRON

Gene Symbol:PCDHGB1
Accession:NM_018922
Location:INTRON

Gene Symbol:PCDHGB1
Accession:NM_032095
Location:INTRON

Gene Symbol:PCDHGB2
Accession:NM_018923
Location:INTRON

Gene Symbol:PCDHGB2
Accession:NM_032096
Location:INTRON

Gene Symbol:PCDHGA1
Accession:NM_018912
Location:INTRON

Gene Symbol:PCDHGA1
Accession:NM_031993
Location:INTRON

Gene Symbol:PCDHGA4
Accession:NM_018917
Location:INTRON

Gene Symbol:PCDHGA4
Accession:NM_032053
Location:INTRON

Variant Samples