RGD:8644897 Rat Genome Database

Variant: RGD:8644897 - Homo sapiens

RGD ID:

8644897

RS ID:

rs367543224

ClinVar ID:

CV104304

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

IGSF22-AS1 PTPN5

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	18,754,215
GRCh38	11	18,732,668

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000011.10:g.18732668G>A NC_000011.9:g.18754215G>A NP_001035059.1:p.Ala386Val NP_001265167.1:p.Ala394Val More...		missense\|missense variant	not provided	none provided

Variant Details

Variant Transcripts

Gene Symbol:	PTPN5
Accession:	XM_017018438
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	379

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSHSLTVRSSLCLFAASQFLLACGVLWFSGYGHIWSQNATNL VSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEE KIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLL SASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYI RGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVVYDGVEITVQKVIHTEDYRLRL ISLKCRDWEDRLLHCHQHLLPAAAAGGCGGHPEDHVPAPSGQGRHDPDMRAVPVCAPRHEPLRKAAVPPVPRMTALLLQG SLGTAQPESRPSPRALPRVLGLLPASSPSVSSLCPLSAWPDPYPPALLFLLYILGSGGQGREGTCQARPGAPGPDPHHAD PGLQFLTMVPSIPDPECFRATLCVLLQCVLSVHPSLPSVPDTVSPQPGRGNELQPLSNRTCLPRPHPHFSQKADDGELGM GSSRRSPESFQLRESSLGWSGHHSQGGLWVSDALRRVPSL*

Gene Symbol:	PTPN5
Accession:	XM_017018435
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	418

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLACGVLWFSGYGHIWSQNATNLVSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTT LVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQ ERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIP GLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITN IEEMNEKCTEYWPEEQVVYDGVEITVQKVIHTEDYRLRLISLKCRDWEDRLLHCHQHLLPAAAAGGCGGHPEDHVPAPSG QGRHDPDMRAVPVCAPRHEPLRKAAVPPVPRMTALLLQGSLGTAQPESRPSPRALPRVLGLLPASSPSVSSLCPLSAWPD PYPPALLFLLYILGSGGQGREGTCQARPGAPGPDPHHADPGLQFLTMVPSIPDPECFRATLCVLLQCVLSVHPSLPSVPD TVSPQPGRGNELQPLSNRTCLPRPHPHFSQKADDGELGMGSSRRSPESFQLRESSLGWSGHHSQGGLWVSDALRRVPSL*

Gene Symbol:	PTPN5
Accession:	NM_032781
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	418

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLACGVLWFSGYGHIWSQNATNLVSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTT LVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQ ERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIP GLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITN IEEMNEKCTEYWPEEQVVYDGVEITVQKVIHTEDYRLRLISLKSGTEERGLKHYWFTSWPDQKTPDRAPPLLHLVREVEE AAQQEGPHCAPIIVHCSAGIGRTGCFIATSICCQQLRQEGVVDILKTTCQLRQDRGGMIQTCEQYQFVHHVMSLYEKQLS HQSPE*

Gene Symbol:	PTPN5
Accession:	NM_001278239
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	362

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSHSLTVRSSLCLFAASQFLLEPTAWL DSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEEKIEDDFLDLDPVPETPV FDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLLSASRVLQAEELHEKALD PFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYIRGYGGEEKVYIATQGPI VSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVVYDGVEITVQKVIHTEDYRLRLISLKSGTEERGLKHYWF TSWPDQKTPDRAPPLLHLVREVEEAAQQEGPHCAPIIVHCSAGIGRTGCFIATSICCQQLRQEGVVDILKTTCQLRQDRG GMIQTCEQYQFVHHVMSLYEKQLSHQSPE*

Gene Symbol:	PTPN5
Accession:	XM_017018437
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	386

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFT YSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFGYLMSPREE SAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSPDPDDPLSS YINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVVYDGVEITVQKVIHT EDYRLRLISLKCRDWEDRLLHCHQHLLPAAAAGGCGGHPEDHVPAPSGQGRHDPDMRAVPVCAPRHEPLRKAAVPPVPRM TALLLQGSLGTAQPESRPSPRALPRVLGLLPASSPSVSSLCPLSAWPDPYPPALLFLLYILGSGGQGREGTCQARPGAPG PDPHHADPGLQFLTMVPSIPDPECFRATLCVLLQCVLSVHPSLPSVPDTVSPQPGRGNELQPLSNRTCLPRPHPHFSQKA DDGELGMGSSRRSPESFQLRESSLGWSGHHSQGGLWVSDALRRVPSL*

Gene Symbol:	PTPN5
Accession:	XM_017018434
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	418

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLACGVLWFSGYGHIWSQNATNLVSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTT LVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQ ERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIP GLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITN IEEMNEKCTEYWPEEQVVYDGVEITVQKVIHTEDYRLRLISLKCRDWEDRLLHCHQHLLPAAAAGGCGGHPEDHVPAPSG QGRHDPDMRAVPVCAPRHEPLRKAAVPPVPRMTALLLQGSLGTAQPESRPSPRALPRVLGLLPASSPSVSSLCPLSAWPD PYPPALLFLLYILGSGGQGREGTCQARPGAPGPDPHHADPGLQFLTMVPSIPDPECFRATLCVLLQCVLSVHPSLPSVPD TVSPQPGRGNELQPLSNRTCLPRPHPHFSQKADDGELGMGSSRRSPESFQLRESSLGWSGHHSQGGLWVSDALRRVPSL*

Gene Symbol:	PTPN5
Accession:	NM_006906
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	418

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLACGVLWFSGYGHIWSQNATNLVSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTT LVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQ ERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIP GLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITN IEEMNEKCTEYWPEEQVVYDGVEITVQKVIHTEDYRLRLISLKSGTEERGLKHYWFTSWPDQKTPDRAPPLLHLVREVEE AAQQEGPHCAPIIVHCSAGIGRTGCFIATSICCQQLRQEGVVDILKTTCQLRQDRGGMIQTCEQYQFVHHVMSLYEKQLS HQSPE*

Gene Symbol:	PTPN5
Accession:	NM_001039970
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	386

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFT YSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFGYLMSPREE SAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSPDPDDPLSS YINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVVYDGVEITVQKVIHT EDYRLRLISLKSGTEERGLKHYWFTSWPDQKTPDRAPPLLHLVREVEEAAQQEGPHCAPIIVHCSAGIGRTGCFIATSIC CQQLRQEGVVDILKTTCQLRQDRGGMIQTCEQYQFVHHVMSLYEKQLSHQSPE*

Gene Symbol:	PTPN5
Accession:	XM_017018439
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	362

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSHSLTVRSSLCLFAASQFLLEPTAWL DSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFTYSEWMEEKIEDDFLDLDPVPETPV FDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFGYLMSPREESAREYLLSASRVLQAEELHEKALD PFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSPDPDDPLSSYINANYIRGYGGEEKVYIATQGPI VSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVVYDGVEITVQKVIHTEDYRLRLISLKCRDWEDRLLHCHQ HLLPAAAAGGCGGHPEDHVPAPSGQGRHDPDMRAVPVCAPRHEPLRKAAVPPVPRMTALLLQGSLGTAQPESRPSPRALP RVLGLLPASSPSVSSLCPLSAWPDPYPPALLFLLYILGSGGQGREGTCQARPGAPGPDPHHADPGLQFLTMVPSIPDPEC FRATLCVLLQCVLSVHPSLPSVPDTVSPQPGRGNELQPLSNRTCLPRPHPHFSQKADDGELGMGSSRRSPESFQLRESSL GWSGHHSQGGLWVSDALRRVPSL*

Gene Symbol:	PTPN5
Accession:	NM_001278236
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	386

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNYEGARSERENHAADDSEGGALDMCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSH SLTVRSSLCLFAASQFLLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQSVSRQPSFT YSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFGYLMSPREE SAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSPDPDDPLSS YINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVVYDGVEITVQKVIHT EDYRLRLISLKSGTEERGLKHYWFTSWPDQKTPDRAPPLLHLVREVEEAAQQEGPHCAPIIVHCSAGIGRTGCFIATSIC CQQLRQEGVVDILKTTCQLRQDRGGMIQTCEQYQFVHHVMSLYEKQLSHQSPE*

Gene Symbol:	PTPN5
Accession:	NM_001278238
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	394

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSHSLTVRSSLCLFAASQFLLACGVLW FSGYGHIWSQNATNLVSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQS VSRQPSFTYSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFG YLMSPREESAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSP DPDDPLSSYINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVVYDGVEI TVQKVIHTEDYRLRLISLKSGTEERGLKHYWFTSWPDQKTPDRAPPLLHLVREVEEAAQQEGPHCAPIIVHCSAGIGRTG CFIATSICCQQLRQEGVVDILKTTCQLRQDRGGMIQTCEQYQFVHHVMSLYEKQLSHQSPE*

Gene Symbol:	PTPN5
Accession:	XM_017018436
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	394

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCCSERLPGLPQPIVMEALDEAEGLQDSQREMPPPPPPSPPSDPAQKPPPRGAGSHSLTVRSSLCLFAASQFLLACGVLW FSGYGHIWSQNATNLVSSLLTLLKQLEPTAWLDSGTWGVPSLLLVFLSVGLVLVTTLVWHLLRTPPEPPTPLPPEDRRQS VSRQPSFTYSEWMEEKIEDDFLDLDPVPETPVFDCVMDIKPEADPTSLTVKSMGLQERRGSNVSLTLDMCTPGCNEEGFG YLMSPREESAREYLLSASRVLQAEELHEKALDPFLLQAEFFEIPMNFVDPKEYDIPGLVRKNRYKTILPNPHSRVCLTSP DPDDPLSSYINANYIRGYGGEEKVYIATQGPIVSTVADFWRMVWQEHTPIIVMITNIEEMNEKCTEYWPEEQVVYDGVEI TVQKVIHTEDYRLRLISLKCRDWEDRLLHCHQHLLPAAAAGGCGGHPEDHVPAPSGQGRHDPDMRAVPVCAPRHEPLRKA AVPPVPRMTALLLQGSLGTAQPESRPSPRALPRVLGLLPASSPSVSSLCPLSAWPDPYPPALLFLLYILGSGGQGREGTC QARPGAPGPDPHHADPGLQFLTMVPSIPDPECFRATLCVLLQCVLSVHPSLPSVPDTVSPQPGRGNELQPLSNRTCLPRP HPHFSQKADDGELGMGSSRRSPESFQLRESSLGWSGHHSQGGLWVSDALRRVPSL*

Gene Symbol:	IGSF22-AS1
Accession:	NR_186353
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000084702	CLINVAR
dbSNP (RS)	rs367543224	CLINVAR
MedGen	CN517202	CLINVAR
NCBI Gene	IGSF22-AS1	CLINVAR
	PTPN5	CLINVAR
OMIM	176879	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:8644897 - Homo sapiens