rs113452581 Rat Genome Database

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Variant: rs113452581 -  Homo sapiens

RGD ID: 15112468
RS ID: rs113452581
ClinVar ID: CV729702
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RLIM  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 73,812,617
GRCh38 X 74,592,782
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_016120.4:c.533A>C
NM_183353.3:c.533A>C
NG_013258.1:g.26845A>C
NC_000023.11:g.74592782T>G
More... 		11/20/2017 missense variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RLIM
Accession:NM_183353
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSDSNDKGSGDQSAAQRRSQMDRLDREEAFYQFVNNLSEEDYRLMRDNNLLGTPGESTEEELLRRLQQIKEGPPPQNS
DENRGGDSSDDVSNGDSIIDWLNSVRQTGNTTRSGQRGNQSWRAVSRTNPNSGDFRFSLEINVNRNNGSQNSENENEPSA
RRSSGENVENNSQRQVETPRSESTSARPSRSERNSTEALTEVPPTRGQRRARSRSPDHRRTRARAERSRSPLHPMSEIPR
RSHHSISSQTFEHPLVNETEGSSRTRHHVTLRQQISGPELLSRGLFAASGTRNASQGAGSSDTAASGESTGSGQRPPTIV
LDLQVRRVRPGEYRQRDSIASRTRSRSQTPNNTVTYESERGGFRRTFSRSERAGVRTYVSTIRIPIRRILNTGLSETTSV
AIQTMLRQIMTGFGELSYFMYSDSDSEPTGSVSNRNMERAESRSGRGGSGGGSSSGSSSSSSSSSSSSSSSSSSSSPSSS
SGGESSETSSDLFEGSNEGSSSSGSSGARREGRHRAPVTFDESGSLPFLSLAQFFLLNEDDDDQPRGLTKEQIDNLAMRS
FGENDALKTCSVCITEYTEGNKLRKLPCSHEYHVHCIDRWLSENSTCPICRRAVLASGNRESVV*

Gene Symbol:RLIM
Accession:NM_016120
Location:EXON
Amino Acid Prediction: N to T (nonsynonymous)
Amino Acid Position: 178
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MENSDSNDKGSGDQSAAQRRSQMDRLDREEAFYQFVNNLSEEDYRLMRDNNLLGTPGESTEEELLRRLQQIKEGPPPQNS
DENRGGDSSDDVSNGDSIIDWLNSVRQTGNTTRSGQRGNQSWRAVSRTNPNSGDFRFSLEINVNRNNGSQNSENENEPSA
RRSSGENVENNSQRQVETPRSESTSARPSRSERNSTEALTEVPPTRGQRRARSRSPDHRRTRARAERSRSPLHPMSEIPR
RSHHSISSQTFEHPLVNETEGSSRTRHHVTLRQQISGPELLSRGLFAASGTRNASQGAGSSDTAASGESTGSGQRPPTIV
LDLQVRRVRPGEYRQRDSIASRTRSRSQTPNNTVTYESERGGFRRTFSRSERAGVRTYVSTIRIPIRRILNTGLSETTSV
AIQTMLRQIMTGFGELSYFMYSDSDSEPTGSVSNRNMERAESRSGRGGSGGGSSSGSSSSSSSSSSSSSSSSSSSSPSSS
SGGESSETSSDLFEGSNEGSSSSGSSGARREGRHRAPVTFDESGSLPFLSLAQFFLLNEDDDDQPRGLTKEQIDNLAMRS
FGENDALKTCSVCITEYTEGNKLRKLPCSHEYHVHCIDRWLSENSTCPICRRAVLASGNRESVV*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000894475 CLINVAR
dbSNP (RS) rs113452581 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RLIM CLINVAR
OMIM 300379 CLINVAR