RGD:11618862 Rat Genome Database

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Variant: RGD:11618862 -  Homo sapiens

RGD ID: 11618862
RS ID: rs199601052
ClinVar ID: CV327930
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124903970  SLC6A4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 28,530,226
GRCh38 17 30,203,208
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011747.2:g.37729T>C
NC_000017.11:g.30203208A>G
NC_000017.10:g.28530226A>G
NP_001036.1:p.Ala594=
More... 		06/14/2016 synonymous 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: A to A (synonymous)
Amino Acid Position: 594
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METTPLNSQKQLSACEDGEDCQENGVLQKVVPTPGDKVESGQISNGYSAVPSPGAGDDTRHSIPATTTTLVAELHQGERE
TWGKKVDFLLSVIGYAVDLGNVWRFPYICYQNGGGAFLLPYTIMAIFGGIPLFYMELALGQYHRNGCISIWRKICPIFKG
IGYAICIIAFYIASYYNTIMAWALYYLISSFTDQLPWTSCKNSWNTGNCTNYFSEDNITWTLHSTSPAEEFYTRHVLQIH
RSKGLQDLGGISWQLALCIMLIFTVIYFSIWKGVKTSGKVVWVTATFPYIILSVLLVRGATLPGAWRGVLFYLKPNWQKL
LETGVWIDAAAQIFFSLGPGFGVLLAFASYNKFNNNCYQDALVTSVVNCMTSFVSGFVIFTVLGYMAEMRNEDVSEVAKD
AGPSLLFITYAEAIANMPASTFFAIIFFLMLITLGLDSTFAGLEGVITAVLDEFPHVWAKRRERFVLAVVITCFFGSLVT
LTFGGAYVVKLLEEYATGPAVLTVALIEAVAVSWFYGITQFCRDVKEMLGFSPGWFWRICWVAISPLFLLFIICSFLMSP
PQLRLFQYNYPYWSIILGYCIGTSSFICIPTYIAYRLIITPGTFKERIIKSITPETPTEIPCGDIRLNAV*

Gene Symbol:LOC124903970
Accession:XR_007065699
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000318839 CLINVAR
dbSNP (RS) rs199601052 CLINVAR
MedGen C0004930 CLINVAR
NCBI Gene SLC6A4 CLINVAR
OMIM 182138 CLINVAR