RGD:15189018 Rat Genome Database

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Variant: RGD:15189018 -  Homo sapiens

RGD ID: 15189018
RS ID: rs73887107
ClinVar ID: CV742893
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYTH4  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 37,693,689
GRCh38 22 37,297,648
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318024.2:c.148A>C
NM_013385.5:c.319A>C
NC_000022.11:g.37297648A>C
NC_000022.10:g.37693689A>C
More... 		06/05/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CYTH4
Accession:NM_013385
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDLCHPEPAELSSGETEELQRIKWHRKQLLEDIQKLKDEIADVFAQIDCFESAEESRMAQKEKELCIGRKKFNMDPAKGI
QYFIEHKLLTPDVQDIARFLYKGEGLHKTAIGTYLGERDPINLQVLQAFVDCHEFANLNLVQALRQFLWSFRLPGEAQKI
DRMMEAFATRYCLCNPGVFQSTDTCYVLSFSIIMLNTSLHNPNVRDRPPFERFVSMNRGINNGSDLPEDQLRNLFDSIKS
EPFSIPEDDGNDLTHTFFNPDREGWLLKLGGRVKTWKRRWFILTDNCLYYFEFTTDKEPRGIIPLENLSVQKVDDPKKPF
CLELYNPSCRGQKIKACKTDGDGRVVEGKHESYRISATSAEERDQWIESIRASITRVPFYDLVSTRKKKIASKQ*

Gene Symbol:CYTH4
Accession:NM_001318024
Location:EXON
Amino Acid Prediction: N to H (nonsynonymous)
Amino Acid Position: 50
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQKEKELCIGRKKFNMDPAKGIQYFIEHKLLTPDVQDIARFLYKGEGLHKTAIGTYLGERDPINLQVLQAFVDCHEFAN
LNLVQALRQFLWSFRLPGEAQKIDRMMEAFATRYCLCNPGVFQSTDTCYVLSFSIIMLNTSLHNPNVRDRPPFERFVSMN
RGINNGSDLPEDQLRNLFDSIKSEPFSIPEDDGNDLTHTFFNPDREGWLLKLGGRVKTWKRRWFILTDNCLYYFEFTTDK
EPRGIIPLENLSVQKVDDPKKPFCLELYNPSCRGQKIKACKTDGDGRVVEGKHESYRISATSAEERDQWIESIRASITRV
PFYDLVSTRKKKIASKQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000909531 CLINVAR
dbSNP (RS) rs73887107 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CYTH4 CLINVAR
OMIM 606514 CLINVAR