RGD:8644899 Rat Genome Database

Variant: RGD:8644899 - Homo sapiens

RGD ID:

8644899

RS ID:

rs367543226

ClinVar ID:

CV104306

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

IGSF22-AS1 PTPN5

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	11	18,754,915
GRCh38	11	18,733,368

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.18733368T>C NC_000011.9:g.18754915T>C NP_001035059.1:p.Tyr330Cys NP_001265167.1:p.Tyr338Cys More...		missense\|missense variant	not provided	none provided

Variant Details

Variant Transcripts

Gene Symbol:	PTPN5
Accession:	NM_032781
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	362

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

Gene Symbol:	PTPN5
Accession:	NM_001039970
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	330

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

Gene Symbol:	PTPN5
Accession:	NM_001278239
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	306

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

Gene Symbol:	PTPN5
Accession:	NM_006906
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	362

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

Gene Symbol:	PTPN5
Accession:	XM_017018436
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	338

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

Gene Symbol:	PTPN5
Accession:	NM_001278238
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	338

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

Gene Symbol:	PTPN5
Accession:	XM_017018435
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	362

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

Gene Symbol:	PTPN5
Accession:	XM_017018438
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	323

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

Gene Symbol:	PTPN5
Accession:	NM_001278236
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	330

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

Gene Symbol:	PTPN5
Accession:	XM_017018439
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	306

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

Gene Symbol:	PTPN5
Accession:	XM_017018434
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	362

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

Gene Symbol:	PTPN5
Accession:	XM_017018437
Location:	EXON
Amino Acid Prediction:	Y to C (nonsynonymous)
Amino Acid Position:	330

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

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	RCV000084704	CLINVAR
dbSNP (RS)	rs367543226	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:8644899 - Homo sapiens