RGD:13537338 Rat Genome Database

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Variant: RGD:13537338 -  Homo sapiens

RGD ID: 13537338
RS ID: rs2292754
ClinVar ID: CV505933
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSMC3IP  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 40,725,379
GRCh38 17 42,573,361
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_029442.1:g.11302A>T
NP_001242943.1:p.Tyr100Asn
NP_037422.2:p.Tyr151Asn
NP_001242944.1:p.Tyr84Asn
More... 		02/07/2017 missense variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:PSMC3IP
Accession:NM_001256014
Location:EXON
Amino Acid Prediction: Y to N (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MYGKQKIYFADQDQFDMVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRER
LKNIKAATNHVTPEEKEQVNRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

Gene Symbol:PSMC3IP
Accession:NM_013290
Location:EXON
Amino Acid Prediction: Y to N (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQDQFDM
VSDADLQVLDGKIVALTAKVQSLQQSCRYMEAEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVNRERQKYCKE
WRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

Gene Symbol:PSMC3IP
Accession:NM_016556
Location:EXON
Amino Acid Prediction: Y to N (nonsynonymous)
Amino Acid Position: 163
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQDQFDM
VSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKE
QVNRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

Gene Symbol:PSMC3IP
Accession:NM_001256016
Location:EXON
Amino Acid Prediction: Y to N (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEK
EQVNRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

Gene Symbol:PSMC3IP
Accession:NM_001256015
Location:EXON
Amino Acid Prediction: Y to N (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEK
EQVNRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000610270 CLINVAR
  RCV002064376 CLINVAR
dbSNP (RS) rs2292754 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PSMC3IP CLINVAR
OMIM 608665 CLINVAR