RGD:28906226 Rat Genome Database

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Variant: RGD:28906226 -  Homo sapiens

RGD ID: 28906226
RS ID: rs199727635
ClinVar ID: CV877173
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC6A4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 28,548,904
GRCh38 17 30,221,886
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001045.6:c.73G>A
NG_011747.2:g.19051G>A
NC_000017.11:g.30221886C>T
NC_000017.10:g.28548904C>T
More... 		01/12/2018 missense variant uncertain significance behavioral disorder
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC6A4
Accession:NM_001045
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 25
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTPLNSQKQLSACEDGEDCQENRVLQKVVPTPGDKVESGQISNGYSAVPSPGAGDDTRHSIPATTTTLVAELHQGERE
TWGKKVDFLLSVIGYAVDLGNVWRFPYICYQNGGGAFLLPYTIMAIFGGIPLFYMELALGQYHRNGCISIWRKICPIFKG
IGYAICIIAFYIASYYNTIMAWALYYLISSFTDQLPWTSCKNSWNTGNCTNYFSEDNITWTLHSTSPAEEFYTRHVLQIH
RSKGLQDLGGISWQLALCIMLIFTVIYFSIWKGVKTSGKVVWVTATFPYIILSVLLVRGATLPGAWRGVLFYLKPNWQKL
LETGVWIDAAAQIFFSLGPGFGVLLAFASYNKFNNNCYQDALVTSVVNCMTSFVSGFVIFTVLGYMAEMRNEDVSEVAKD
AGPSLLFITYAEAIANMPASTFFAIIFFLMLITLGLDSTFAGLEGVITAVLDEFPHVWAKRRERFVLAVVITCFFGSLVT
LTFGGAYVVKLLEEYATGPAVLTVALIEAVAVSWFYGITQFCRDVKEMLGFSPGWFWRICWVAISPLFLLFIICSFLMSP
PQLRLFQYNYPYWSIILGYCIGTSSFICIPTYIAYRLIITPGTFKERIIKSITPETPTEIPCGDIRLNAV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001126932 CLINVAR
dbSNP (RS) rs199727635 CLINVAR
MedGen C0004930 CLINVAR
NCBI Gene SLC6A4 CLINVAR
OMIM 182138 CLINVAR