rs553667435 Rat Genome Database

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Variant: rs553667435 -  Homo sapiens

RGD ID: 150545233
RS ID: rs553667435
ClinVar ID: CV1315494
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TRIP4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 15 64,686,179
GRCh38 15 64,393,980
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001321924.2:c.-555C>T
NM_016213.5:c.136C>T
NG_046848.1:g.11177C>T
NP_057297.2:p.Arg46Ter
More... 		12/01/2023 5 prime utr variant pathogenic|likely pathogenic none provided

Variant Details
Variant Transcripts
Gene Symbol:TRIP4
Accession:NM_001321924
Location:5UTRS;EXON

Gene Symbol:TRIP4
Accession:NM_016213
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVAGAVSGEPLVHWCTQQLRKTFGLDVSEEIIQYVLSIESAEEI*EYVTDLLQGNEGKKGQFIEELITKWQKNDQELIS
DPLQQCFKKDEILDGQKSGDHLKRGRKKGRNRQEVPAFTEPDTTAEVKTPFDLAKAQENSNSVKKKTKFVNLYTREGQDR
LAVLLPGRHPCDCLGQKHKLINNCLICGRIVCEQEGSGPCLFCGTLVCTHEEQDILQRDSNKSQKLLKKLMSGVENSGKV
DISTKDLLPHQELRIKSGLEKAIKHKDKLLEFDRTSIRRTQVIDDESDYFASDSNQWLSKLERETLQKREEELRELRHAS
RLSKKVTIDFAGRKILEEENSLAEYHSRLDETIQAIANGTLNQPLTKLDRSSEEPLGVLVNPNMYQSPPQWVDHTGAASQ
KKAFRSSGFGLEFNSFQHQLRIQDQEFQEGFDGGWCLSVHQPWASLLVRGIKRVEGRSWYTPHRGRLWIAATAKKPSPQE
VSELQATYRLLRGKDVEFPNDYPSGCLLGCVDLIDCLSQKQFKEQFPDISQESDSPFVFICKNPQEMVVKFPIKGNPKIW
KLDSKIHQGAKKGLMKQNKAV*

Gene Symbol:TRIP4
Accession:NR_135855
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:26924529   PMID:27008887   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003727188 CLINVAR
dbSNP (RS) rs553667435 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TRIP4 CLINVAR
OMIM 604501 CLINVAR