RGD:156320076 Rat Genome Database

RGD:156320076 Rat Genome Database

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Variant: RGD:156320076 - Homo sapiens

RGD ID:

156320076

ClinVar ID:

CV2197223

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	1	202,129,821
GRCh38	1	202,160,693

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001364877.2:c.-53+694G>A NM_002832.3:c.115G>A NM_001199797.2:c.174+694G>A NC_000001.11:g.202160693C>T More...	08/17/2022	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	PTPN7
Accession:	XM_047426297
Location:	5UTRS;INTRON

Gene Symbol:	PTPN7
Accession:	NM_001364877
Location:	5UTRS;INTRON

Gene Symbol:	PTPN7
Accession:	XM_011509819
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGKAWPLTHSQGTGPWAPEGHRREAADPWWQRQQAQESRMQLGCAWVAARRGGGRKLASWSLLSPQRQTDRQTDSWQEA AWGPQLLQQTSWLSEPPLGPAPHLSMVQAHGGRSRAQPLTLSLGAAMTQPPPEKTPAKKHVRLQERRGSNVALMLDVRSL GAVEPICSVNTPREVTLHFLRTAGHPLTRWALQRQPPSPKQLEEEFLKIPSNFVSPEDLDIPGHASKDRYKTILPNPQSR VCLGRAQSQEDGDYINANYIRGYDGKEKVYIATQGPMPNTVSDFWEMVWQEEVSLIVMLTQLREGKEKCVHYWPTEEETY GPFQIRIQDMKECPEYTVRQLTIQYQEERRSVKHILFSAWPDHQTPESAGPLLRLVAEVEESPETAAHPGPIVVHCSAGI GRTGCFIATRIGCQQLKARGEVDILGIVCQLRLDRLLERRKLEAQEYSWPDPRLQRSGFVPGAEWIKEDQVSTWGITPQH VGGMIQTAEQYQFLHHTLALYAGQLPEEPSP*

Gene Symbol:	PTPN7
Accession:	XM_011509823
Location:	EXON
Amino Acid Prediction:	G to S (nonsynonymous)
Amino Acid Position:	39

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGKAWPLTHSQGTGPWAPEGHRREAADPWWQRQQAQESRMQLGCAWVAARRGGGRKLASWSLLSPQRQTDRQTDSWQEA AWGPQLLQQTSWLSEPPLGPAPHLSMVQAHGGRSRAQPLTLSLGAAMTQPPPEKTPAKKHVRLQERRGSNVALMLDVRSL GAVEPICSVNTPREVTLHFLRTAGHPLTRWALQRQPPSPKQLEEEFLKIPSNFVSPEDLDIPGHASKDRYKTILPNPQSR VCLGRAQSQEDGDYINANYIRGYDGKEKVYIATQGPMPNTVSDFWEMVWQEEVSLIVMLTQLREGKELPPS*

Gene Symbol:	PTPN7
Accession:	NR_037663
Location:	EXON;NON-CODING

Gene Symbol:	PTPN7
Accession:	XR_007062439
Location:	EXON;NON-CODING

Gene Symbol:	PTPN7
Accession:	XR_921906
Location:	EXON;NON-CODING

Gene Symbol:	PTPN7
Accession:	NR_037664
Location:	EXON;NON-CODING

Gene Symbol:	PTPN7
Accession:	NM_080588
Location:	INTRON

Gene Symbol:	PTPN7
Accession:	XM_011509820
Location:	INTRON

Gene Symbol:	PTPN7
Accession:	NM_002832
Location:	INTRON

Gene Symbol:	PTPN7
Accession:	XM_047426306
Location:	INTRON

Gene Symbol:	PTPN7
Accession:	NM_001364878
Location:	INTRON

Gene Symbol:	PTPN7
Accession:	NM_001199797
Location:	INTRON

Gene Symbol:	PTPN7
Accession:	XM_047426296
Location:	INTRON

Gene Symbol:	PTPN7
Accession:	XR_007062440
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004079007	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	PTPN7	CLINVAR
OMIM	176889	CLINVAR