RGD:11610633 Rat Genome Database

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Variant: RGD:11610633 -  Homo sapiens

RGD ID: 11610633
RS ID: rs746710451
ClinVar ID: CV312599
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BLK  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 11,403,590
GRCh38 8 11,546,081
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.11546081G>A
NC_000008.10:g.11403590G>A
NP_001706.2:p.Pro51=
NM_001330465.2:c.-61G>A
More...
06/14/2016 5 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BLK
Accession:XM_011543827
Location:5UTRS;EXON

Gene Symbol:BLK
Accession:NM_001330465
Location:5UTRS;EXON

Gene Symbol:BLK
Accession:NM_001715
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML
KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF
SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS
LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGCL
LDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCCKIADFGLARIIDSEYTAQEGAKFPIK
WTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRMPRPDTCPPELYRGVIAECWRSRPEER
PTFEFLQSVLEDFYTATERQYELQP*

Gene Symbol:BLK
Accession:XM_011543824
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML
KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF
SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS
LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGGA
PRRAASSERGGRAGLSRRRRVRCGCLLDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCC
KIADFGLARIIDSEYTAQEGAKFPIKWTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRM
PRPDTCPPELYRGVIAECWRSRPEERPTFEFLQSVLEDFYTATERQYELQP*

Gene Symbol:BLK
Accession:XM_011543828
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML
KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF
SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS
LRLVRKLGSGQFGEVWMEVLRGSEDRGEDTHFTEEEVEVQSRVVTAGTAYGGGRAGTESSSPSPEVAPSFVLCLKLALTM
SCSGALTPLSFSSPRWKQEVKRDEP*

Gene Symbol:BLK
Accession:XM_011543829
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML
KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF
SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS
LRLVRKLGSGQFGEVWMVLRGSEDRGEDTHFTEEEVEVQSRVVTAGTAYGGGRAGTESSSPSPEVAPSFVLCLKLALTMS
CSGALTPLSFSSPRWKQEVKRDEP*

Gene Symbol:BLK
Accession:XM_011543825
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML
KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF
SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS
LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGGA
PRRAASSERGGRAGLSRRRRVRCGCLLDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCC
KIADFGLARIIDSEYTAQEGAKFPIKWTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRM
PRPDTCPPELYRGVIAECWRSRPEERPTFEFLQSVLEDFYTATERQYELQP*

Gene Symbol:BLK
Accession:XM_047422081
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML
KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF
SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS
LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGGA
PRRAASSERGGRAGLSRRRRVRCGCLLDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCC
KIADFGLARIIDSEYTAQEGAKFPIKWTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRM
PRPDTCPPELYRGVIAECWRSRPEERPTFEFLQSVLEDFYTATERQYELQP*

Gene Symbol:BLK
Accession:XM_047422082
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML
KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF
SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS
LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGCL
LDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCCKIADFGLARIIDSEYTAQEGAKFPIK
WTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRMPRPDTCPPELYRGVIAECWRSRPEER
PTFEFLQSVLEDFYTATERQYELQP*

Gene Symbol:BLK
Accession:XM_047422084
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML
KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF
SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS
LRLVRKLGSGQFGEVWMVLRGSEDRGEDTHFTEEEVEVQSRVVTAGTAYGGGRAGTESSSPSPEVAPSFVLCLKLALTMS
CSGALTPLSFSSPRWKQEVKRDEP*

Gene Symbol:BLK
Accession:XM_047422083
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 51
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML
KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF
SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS
LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGCL
LDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCCKIADFGLARIIDSEYTAQEGAKFPIK
WTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRMPRPDTCPPELYRGVIAECWRSRPEER
PTFEFLQSVLEDFYTATERQYELQP*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000383958 CLINVAR
dbSNP (RS) rs746710451 CLINVAR
MedGen C3150618 CLINVAR
NCBI Gene BLK CLINVAR
OMIM 191305 CLINVAR
  613375 CLINVAR