RGD:151768876 Rat Genome Database

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Variant: RGD:151768876 -  Homo sapiens

RGD ID: 151768876
RS ID: rs139657728
ClinVar ID: CV1411163
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PSMC3IP  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 40,729,267
GRCh38 17 42,577,249
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001256015.2:c.-182G>T
NM_001256014.2:c.-1G>T
NM_001256016.2:c.-68G>T
NM_013290.7:c.189G>T
More... 		11/08/2021 5 prime utr variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:PSMC3IP
Accession:NM_001256016
Location:5UTRS;EXON

Gene Symbol:PSMC3IP
Accession:NM_001256015
Location:5UTRS;EXON

Gene Symbol:PSMC3IP
Accession:NM_001256014
Location:5UTRS;EXON

Gene Symbol:PSMC3IP
Accession:NM_013290
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKENMYGKQKIYFADQDQFDM
VSDADLQVLDGKIVALTAKVQSLQQSCRYMEAEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVYRERQKYCKE
WRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

Gene Symbol:PSMC3IP
Accession:NM_016556
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 63
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKENMYGKQKIYFADQDQFDM
VSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKE
QVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002045047 CLINVAR
dbSNP (RS) rs139657728 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PSMC3IP CLINVAR
OMIM 608665 CLINVAR