RGD:15142214 Rat Genome Database

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Variant: RGD:15142214 -  Homo sapiens

RGD ID: 15142214
RS ID: rs202144890
ClinVar ID: CV740763
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130060911  PSMC3IP  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 40,729,675
GRCh38 17 42,577,657
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.-341G>A
NM_013290.7:c.30G>A
NR_045671.2:n.73G>A
NM_001256014.2:c.-251G>A
More... 		11/17/2017 5 prime utr variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:PSMC3IP
Accession:NM_001256014
Location:5UTRS;EXON

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

Gene Symbol:PSMC3IP
Accession:NM_001256016
Location:5UTRS;EXON

Gene Symbol:PSMC3IP
Accession:NM_013290
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQDQFDM
VSDADLQVLDGKIVALTAKVQSLQQSCRYMEAEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKEQVYRERQKYCKE
WRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

Gene Symbol:PSMC3IP
Accession:NM_016556
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSKGRAEAAAGAAGILLRYLQEQNRPYSSQDVFGNLQREHGLGKAVVVKTLEQLAQQGKIKEKMYGKQKIYFADQDQFDM
VSDADLQVLDGKIVALTAKVQSLQQSCRYMEAELKELSSALTTPEMQKEIQELKKECAGYRERLKNIKAATNHVTPEEKE
QVYRERQKYCKEWRKRKRMATELSDAILEGYPKSKKQFFEEVGIETDEDYNVTLPDP*

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

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000899632 CLINVAR
dbSNP (RS) rs202144890 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC130060911 CLINVAR
  PSMC3IP CLINVAR
OMIM 608665 CLINVAR