RGD:8563815 Rat Genome Database

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Variant: RGD:8563815 -  Homo sapiens

RGD ID: 8563815
RS ID: rs104894035
ClinVar ID: CV28662
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSPH  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 56,088,812
GRCh38 7 56,021,119
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011473.1:g.35457G>A
NC_000007.14:g.56021119C>T
NC_000007.13:g.56088812C>T
NP_004568.2:p.Asp32Asn
More... 		05/11/2018 missense|missense variant pathogenic|uncertain significance Phosphoserine phosphatase deficiency; PSPH deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PSPH
Accession:XM_017012468
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMELVSRLQERNVQVFLISGGFRSIVEHVASKLNI
PATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKVIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQV
KDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_047420645
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_047420646
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_004577
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370519
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_017012467
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370509
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370506
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370521
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_017012469
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMELVSRLQERNVQVFLISGGFRSIVEHVASKLNI
PATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKVIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQV
KDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_047420651
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMELVSRLQERNVQVFLISGGFRSIVEHVASKLNI
PATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKVIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQV
KDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370513
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_047420644
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370503
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370517
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_047420652
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMELVSRLQERNVQVFLISGGFRSIVEHVASKLNI
PATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKVIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQV
KDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_006715761
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMELVSRLQERNVQVFLISGGFRSIVEHVASKLNI
PATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKVIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQV
KDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370520
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370511
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_047420649
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_047420650
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370514
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370510
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370516
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370522
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370505
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_047420653
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMELVSRLQERNVQVFLISGGFRSIVEHVASKLNI
PATNVFANRLKFYFNGEYAGFDETQPTAESGGKGKVIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQV
KDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370504
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370512
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_047420647
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_047420654
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVNMQVLMRRSQQLNLVEKEK*

Gene Symbol:PSPH
Accession:NM_001370507
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370515
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370508
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:NM_001370518
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*

Gene Symbol:PSPH
Accession:XM_047420648
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 32
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSHSELRKLFYSADAVCFDVDSTVIREEGINELAKICGVEDAVSEMTRRAMGGAVPFKAALTERLALIQPSREQVQRLI
AEQPPHLTPGIRELVSRLQERNVQVFLISGGFRSIVEHVASKLNIPATNVFANRLKFYFNGEYAGFDETQPTAESGGKGK
VIKLLKEKFHFKKIIMIGDGATDMEACPPADAFIGFGGNVIRQQVKDNAKWYITDFVELLGELEE*
Variant Samples
Additional References at PubMed
PMID:9222972   PMID:14673469   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014593 CLINVAR
dbSNP (RS) rs104894035 CLINVAR
MedGen C1291463 CLINVAR
NCBI Gene PSPH CLINVAR
OMIM 172480 CLINVAR
  614023 CLINVAR
OMIM Allele 172480.0001 CLINVAR
SNOMED CT 124432005 CLINVAR