RGD:401882530 Rat Genome Database

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Variant: RGD:401882530 -  Homo sapiens

RGD ID: 401882530
ClinVar ID: CV2778363
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DOCK2  INSYN2B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 5 169,310,272
GRCh38 5 169,883,268
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1227t1:c.2799+42416T>C
NM_004946.3:c.2799+42416T>C
NM_001129891.3:c.631A>G
NM_001346304.2:c.631A>G
More... 		08/15/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:INSYN2B
Accession:XM_047416585
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQQNMKVRPVLLKRNSLESVEFVKQPHHRRSKSQQVRFKEDGTTKNPTGLAEVDVQTPEDPAVMGKTQATRHHLPPTYS
LSFPRSQKAGGFRNIAIQTSPSLRKHFPVFKRKRLTASKSLVEMPTASQSAIQVNGNLSEQDIVSSDLAYLRLAQHLEDG
PRRVKVSHAFLPRVPKVQSNGPVSICLEAGTWRSLEKATAAIQVPDDIYHRPSWEARESALSPDRSAEVSNSIHPLDDTR
PGDGRRVTPLDSEKSTSCLNATSVASHTPGTEELKPELLLPKDNSDDKDLGSLSSQSKETCVPSSPRTHSSPSQGSHSQP
AHPGRASDCPSSSNNHQNLVSLKTNSASKSAPGCQEQTANNPTESDTLEFPNCPGSNHLPSSLSRSETKLQSNREISDIN
QIHLARGELCDLQGRLQSVEESLHSNQEKIKVLLNVIQDLEKARALTEGRNFYRTGQDLNNCSTCQNTACIIYRYLATSE
ACSVDHKAIGSAEHSSKLLNAKSQERQKQV*

Gene Symbol:INSYN2B
Accession:NM_001129891
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQQNMKVRPVLLKRNSLESVEFVKQPHHRRSKSQQVRFKEDGTTKNPTGLAEVDVQTPEDPAVMGKTQATRHHLPPTYS
LSFPRSQKAGGFRNIAIQTSPSLRKHFPVFKRKRLTASKSLVEMPTASQSAIQVNGNLSEQDIVSSDLAYLRLAQHLEDG
PRRVKVSHAFLPRVPKVQSNGPVSICLEAGTWRSLEKATAAIQVPDDIYHRPSWEARESALSPDRSAEVSNSIHPLDDTR
PGDGRRVTPLDSEKSTSCLNATSVASHTPGTEELKPELLLPKDNSDDKDLGSLSSQSKETCVPSSPRTHSSPSQGSHSQP
AHPGRASDCPSSSNNHQNLVSLKTNSASKSAPGCQEQTANNPTESDTLEFPNCPGSNHLPSSLSRSETKLQSNREISDIN
QIHLARGELCDLQGRLQSVEESLHSNQEKIKVLLNVIQDLEKARALTEGRNFYRTGQDLNNCSTCQNTACIIYSVEYDFR
QQEGRFHEVLQSLEEAEPVEEASPPPKSPAEPPAPEKQDLRRKTKKVKKKCFWWI*

Gene Symbol:INSYN2B
Accession:XM_017008908
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQQNMKVRPVLLKRNSLESVEFVKQPHHRRSKSQQVRFKEDGTTKNPTGLAEVDVQTPEDPAVMGKTQATRHHLPPTYS
LSFPRSQKAGGFRNIAIQTSPSLRKHFPVFKRKRLTASKSLVEMPTASQSAIQVNGNLSEQDIVSSDLAYLRLAQHLEDG
PRRVKVSHAFLPRVPKVQSNGPVSICLEAGTWRSLEKATAAIQVPDDIYHRPSWEARESALSPDRSAEVSNSIHPLDDTR
PGDGRRVTPLDSEKSTSCLNATSVASHTPGTEELKPELLLPKDNSDDKDLGSLSSQSKETCVPSSPRTHSSPSQGSHSQP
AHPGRASDCPSSSNNHQNLVSLKTNSASKSAPGCQEQTANNPTESDTLEFPNCPGSNHLPSSLSRSETKLQSNREISDIN
QIHLARGELCDLQGRLQSVEESLHSNQEKIKVLLNVIQDLEKARALTEGRNFYRTGQDLNNCSTCQNTACIIYRYLATSE
ACSVDHKAIGSAEHSSKLLNAKSQERQKQV*

Gene Symbol:INSYN2B
Accession:NM_001346304
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAQQNMKVRPVLLKRNSLESVEFVKQPHHRRSKSQQVRFKEDGTTKNPTGLAEVDVQTPEDPAVMGKTQATRHHLPPTYS
LSFPRSQKAGGFRNIAIQTSPSLRKHFPVFKRKRLTASKSLVEMPTASQSAIQVNGNLSEQDIVSSDLAYLRLAQHLEDG
PRRVKVSHAFLPRVPKVQSNGPVSICLEAGTWRSLEKATAAIQVPDDIYHRPSWEARESALSPDRSAEVSNSIHPLDDTR
PGDGRRVTPLDSEKSTSCLNATSVASHTPGTEELKPELLLPKDNSDDKDLGSLSSQSKETCVPSSPRTHSSPSQGSHSQP
AHPGRASDCPSSSNNHQNLVSLKTNSASKSAPGCQEQTANNPTESDTLEFPNCPGSNHLPSSLSRSETKLQSNREISDIN
QIHLARGELCDLQGRLQSVEESLHSNQEKIKVLLNVIQDLEKARALTEGRNFYRTGQDLNNCSTCQNTACIIYSVEYDFR
QQEGRFHEVLQSLEEAEPVEEASPPPKSPAEPPAPEKQDLRRKTKKVKKKCFWWI*

Gene Symbol:DOCK2
Accession:XM_005265830
Location:INTRON

Gene Symbol:DOCK2
Accession:XM_017009190
Location:INTRON

Gene Symbol:DOCK2
Accession:XM_011534448
Location:INTRON

Gene Symbol:DOCK2
Accession:XM_011534449
Location:INTRON

Gene Symbol:DOCK2
Accession:XM_011534451
Location:INTRON

Gene Symbol:DOCK2
Accession:NM_004946
Location:INTRON

Gene Symbol:DOCK2
Accession:XM_011534450
Location:INTRON

Gene Symbol:DOCK2
Accession:NR_156756
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004344051 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene DOCK2 CLINVAR
  INSYN2B CLINVAR
OMIM 603122 CLINVAR