RGD:15110777 Rat Genome Database

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Variant: RGD:15110777 -  Homo sapiens

RGD ID: 15110777
RS ID: rs146056067
ClinVar ID: CV715464
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSMC3IP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 40,726,131
GRCh38 17 42,574,113
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256014.2:c.134G>A
NM_013290.7:c.323G>A
NM_001256015.2:c.86G>A
NM_001256016.2:c.86G>A
More... 		12/31/2019 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PSMC3IP
Accession:NM_001256015
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSDADLQVLDGKIVALTAKVQSLQQSCHYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEK
EQVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

Gene Symbol:PSMC3IP
Accession:NM_001256016
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 29
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSDADLQVLDGKIVALTAKVQSLQQSCHYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEK
EQVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

Gene Symbol:PSMC3IP
Accession:NM_013290
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQDQFDM
VSDADLQVLDGKIVALTAKVQSLQQSCHYMEAEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVYRERQKYCKE
WRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

Gene Symbol:PSMC3IP
Accession:NM_016556
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQDQFDM
VSDADLQVLDGKIVALTAKVQSLQQSCHYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKE
QVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

Gene Symbol:PSMC3IP
Accession:NM_001256014
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCHYMEAELKELSSALTTPEMQKEIQELKKECAGYRER
LKNIKAATNHVTPEEKEQVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

Gene Symbol:PSMC3IP
Accession:NR_045669
Location:EXON;NON-CODING

Gene Symbol:PSMC3IP
Accession:NR_045671
Location:INTRON;NON-CODING

Gene Symbol:PSMC3IP
Accession:NR_045670
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000960972 CLINVAR
  RCV003926138 CLINVAR
dbSNP (RS) rs146056067 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PSMC3IP CLINVAR
OMIM 608665 CLINVAR