RGD:156247022 Rat Genome Database

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Variant: RGD:156247022 -  Homo sapiens

RGD ID: 156247022
ClinVar ID: CV2145550
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC124174315  RSPO2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 109,094,837
GRCh38 8 108,082,609
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282863.2:c.30C>T
NM_178565.5:c.30C>T
LRG_1405:g.6077C>T
NG_065170.1:g.6077C>T
More... 		02/04/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RSPO2
Accession:NM_001282863
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQFRLFSFALIILNCMDYSHCQGNRWRRSKRGCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFAPLEETMECVG
CEVGHWSEWGTCSRNNRTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKL
IERAQEQHSVFLATDRANQ*

Gene Symbol:RSPO2
Accession:NM_178565
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQFRLFSFALIILNCMDYSHCQGNRWRRSKRASYVSNPICKGCLSCSKDNGCSRCQQKLFFFLRREGMRQYGECLHSCPS
GYYGHRAPDMNRCARCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFAPLEETMECVEGCEVGHWSEWGTCSRNN
RTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKLIERAQEQHSVFLATDR
ANQ*

Gene Symbol:RSPO2
Accession:NM_001317942
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003008307 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LOC124174315 CLINVAR
  RSPO2 CLINVAR
OMIM 610575 CLINVAR