RGD:28867607 Rat Genome Database

Variant: RGD:28867607 - Homo sapiens

RGD ID:

28867607

RS ID:

rs765086289

ClinVar ID:

CV898267

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PSPH

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	7	56,082,805
GRCh38	7	56,015,112

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
NM_001370512.1:c.481G>A NM_001370521.1:c.481G>A NM_001370522.1:c.481G>A NM_001370504.1:c.481G>A More...	01/12/2018	missense variant	uncertain significance	Phosphoserine phosphatase deficiency; PSPH deficiency

Disease Annotations Click to see Annotation Detail View

PSPH deficiency (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PSPH
Accession:	NM_001370519
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370518
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_047420649
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_017012469
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMELVSRLQERNVQVFLISGGFRSIVEHVASKLNI PATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKMIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQV KDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370510
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_004577
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_017012467
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370507
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_047420648
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370503
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370521
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_047420645
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_047420647
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370513
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_047420650
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370512
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370520
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370505
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_047420644
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_047420654
Location:	EXON
Amino Acid Prediction:	K to K (synonymous)
Amino Acid Position:	114

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVNMQVLMRRSQQLNLVEKEK*

Gene Symbol:	PSPH
Accession:	NM_001370514
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370511
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_047420653
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMELVSRLQERNVQVFLISGGFRSIVEHVASKLNI PATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKMIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQV KDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370516
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_047420646
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_047420651
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMELVSRLQERNVQVFLISGGFRSIVEHVASKLNI PATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKMIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQV KDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_006715761
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMELVSRLQERNVQVFLISGGFRSIVEHVASKLNI PATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKMIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQV KDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_017012468
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMELVSRLQERNVQVFLISGGFRSIVEHVASKLNI PATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKMIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQV KDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370509
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370515
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370517
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370504
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370522
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	XM_047420652
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	116

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMELVSRLQERNVQVFLISGGFRSIVEHVASKLNI PATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKMIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQV KDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370506
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:	PSPH
Accession:	NM_001370508
Location:	EXON
Amino Acid Prediction:	V to M (nonsynonymous)
Amino Acid Position:	161

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGIDELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK MIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV001161986	CLINVAR
dbSNP (RS)	rs765086289	CLINVAR
MedGen	C1291463	CLINVAR
NCBI Gene	PSPH	CLINVAR
OMIM	172480	CLINVAR
	614023	CLINVAR
SNOMED CT	124432005	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:28867607 - Homo sapiens

Imported Disease Annotations - ClinVar