rs766731640 Rat Genome Database

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Variant: rs766731640 -  Homo sapiens

RGD ID: 15118474
RS ID: rs766731640
ClinVar ID: CV746305
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EDARADD  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 236,631,557
GRCh38 1 236,468,257
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011566.1:g.78878C>T
NC_000001.11:g.236468257C>T
NM_145861.4:c.246C>T
NC_000001.10:g.236631557C>T
More... 		04/25/2018 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:EDARADD
Accession:NM_145861
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 82
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLRTTKQMGRGTKAPGHQEDHMVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTITLNCPRNSDMKNQGEENGFP
DSTGDPLPEISKDNSCKENCTCSSCLLRAPTISDLLNDQDLLDVIRIKLDPCHPTVKNWRNFASKWGMSYDELCFLEQRP
QSPTLEFLLRNSQRTVGQLMELCRLYHRADVEKVLRRWVDEEWPKRERGDPSRHF*

Gene Symbol:EDARADD
Accession:NM_080738
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASPDDPLRADHMVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTITLNCPRNSDMKNQGEENGFPDSTGDPLPEI
SKDNSCKENCTCSSCLLRAPTISDLLNDQDLLDVIRIKLDPCHPTVKNWRNFASKWGMSYDELCFLEQRPQSPTLEFLLR
NSQRTVGQLMELCRLYHRADVEKVLRRWVDEEWPKRERGDPSRHF*

Gene Symbol:EDARADD
Accession:NM_001422628
Location:EXON
Amino Acid Prediction: S to S (synonymous)
Amino Acid Position: 60
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTITLNCPRNSDMKNQGEENGFPDSTGDPLPEISKDNSCKENCTC
SSCLLRAPTISDLLNDQDLLDVIRIKLDPCHPTVKNWRNFASKWGMSYDELCFLEQRPQSPTLEFLLRNSQRTVGQLMEL
CRLYHRADVEKVLRRWVDEEWPKRERGDPSRHF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000917982 CLINVAR
dbSNP (RS) rs766731640 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene EDARADD CLINVAR
OMIM 606603 CLINVAR