RGD:156139364 Rat Genome Database

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Variant: RGD:156139364 -  Homo sapiens

RGD ID: 156139364
ClinVar ID: CV2202898
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC107303342  TATDN2  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 10,311,900
GRCh38 3 10,270,216
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014760.4:c.1034C>G
NG_046758.1:g.16734C>G
NC_000003.12:g.10270216C>G
NC_000003.11:g.10311900C>G
More... 		04/07/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:TATDN2
Accession:NM_014760
Location:EXON
Amino Acid Prediction: S to C (nonsynonymous)
Amino Acid Position: 345
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASERGKVKHNWSSTSEGCPRKRSCLREPCDVAPSSRPAQRSASRSGGPSSPKRLKAQKEDDVACSRRLSWGSSRRRNNS
SSSFSPHFLGPGVGGAASKGCLIRNTRGFLSSGGSPLRPANASLEEMASLEEEACSLKVDSKDSSHNSTNSEFAAEAEGQ
NDTIEEPNKVQKRKRDRLRDQGSTMIYLKAIQGILGKSMPKRKGEAATRAKPSAAEHPSHGEGPARSEGPAKTAEGAARS
VTVTAAQKEKDATPEVSMEEDKTVPERSSFYDRRVVIDPQEKPSEEPLGDRRTVIDKCSPPLEFLDDSDSHLEIQKHKDR
EVVMEHPSSGSDWSDVEEISTVRFCQEEPVSLKPSAVPEPSSFTTDYVMYPPHLYSSPWCDYASYWTSSPKPSSYPSTGS
SSNDAAQVGKSSRSRMSDYSPNSTGSVQNTSRDMEASEEGWSQNSRSFRFSRSSEEREVKEKRTFQEEMPPRPCGGHASS
SLPKSHLEPSLEEGFIDTHCHLDMLYSKLSFQGTFTKFRKIYSSSFPKEFQGCISDFCDPRTLTDCLWEELLKEDLVWGA
FGCHPHFARYYSESQERNLLQALRHPKAVAFGEMGLDYSYKCTTPVPEQHKVFERQLQLAVSLKKPLVIHCREADEDLLE
IMKKFVPPDYKIHRHCFTGSYPVIEPLLKYFPNMSVGFTAVLTYSSAWEAREALRQIPLERIIVETDAPYFLPRQVPKSL
CQYAHPGLALHTVREIARVKDQPLSLTLAALRENTSRLYSL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004069172 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LOC107303342 CLINVAR
  TATDN2 CLINVAR
OMIM 619330 CLINVAR