RGD:15199658 Rat Genome Database

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Variant: RGD:15199658 -  Homo sapiens

RGD ID: 15199658
RS ID: rs140456301
ClinVar ID: CV720831
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ANXA10  LOC105377524  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 169,100,461
GRCh38 4 168,179,310
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_007193.5:c.722T>C
NC_000004.12:g.168179310T>C
NC_000004.11:g.169100461T>C
NM_007193.4:c.722T>C
More... 		02/20/2018 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:ANXA10
Accession:NM_007193
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 241
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCGDYVQGTIFPAPNFNPIMDAQMLGGALQGFDCDKDMLINILTQRCNAQRMMIAEAYQSMYGRDLIGDMREQLSDHFK
DVMAGLMYPPPLYDAHELWHAMKGVGTDENCLIEILASRTNGEIFQMREAYCLQYSNNLQEDIYSETSGHFRDTLMNLVQ
GTREEGYTDPAMAAQDAMVLWEACQQKTGEHKTMLQMILCNKSYQQLRLVFQEFQNISGQDMVDAINECYDGYFQELLVA
TVLCVRDKPAYFAYRLYSAIHDFGFHNKTVIRILIARSEIDLLTIRKRYKERYGKSLFHDIRNFASGHYKKALLAICAGD
AEDY*

Gene Symbol:ANXA10
Accession:XM_011531571
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 261
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFCGDYVQGTIFPAPNFNPIMDAQMLGGALQGFDCDKDMLINILTQRCNAQRMMIAEAYQSMYGRAQCVLFSSMCPCVLI
IQLLLDLIGDMREQLSDHFKDVMAGLMYPPPLYDAHELWHAMKGVGTDENCLIEILASRTNGEIFQMREAYCLQYSNNLQ
EDIYSETSGHFRDTLMNLVQGTREEGYTDPAMAAQDAMVLWEACQQKTGEHKTMLQMILCNKSYQQLRLVFQEFQNISGQ
DMVDAINECYDGYFQELLVATVLCVRDKPAYFAYRLYSAIHDFGFHNKTVIRILIARSEIDLLTIRKRYKERYGKSLFHD
IRNFASGHYKKALLAICAGDAEDY*

Gene Symbol:LOC105377524
Accession:XR_939424
Location:INTRON;NON-CODING

Gene Symbol:LOC105377524
Accession:XR_001741917
Location:INTRON;NON-CODING

Gene Symbol:LOC105377524
Accession:XR_007058356
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000890694 CLINVAR
dbSNP (RS) rs140456301 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene ANXA10 CLINVAR
OMIM 608008 CLINVAR