RGD:156301094 Rat Genome Database

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Variant: RGD:156301094 -  Homo sapiens

RGD ID: 156301094
ClinVar ID: CV2149832
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RSPO2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 108,970,399
GRCh38 8 107,958,171
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1405t1:c.525A>G
NM_001317942.2:c.324A>G
NM_001282863.2:c.333A>G
NM_178565.5:c.525A>G
More... 		02/10/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:RSPO2
Accession:NM_178565
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 175
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQFRLFSFALIILNCMDYSHCQGNRWRRSKRASYVSNPICKGCLSCSKDNGCSRCQQKLFFFLRREGMRQYGECLHSCPS
GYYGHRAPDMNRCARCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFAPLEETMECVEGCEVGHWSEWGTCSRNN
RTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKLIERAQEQHSVFLATDR
ANQ*

Gene Symbol:RSPO2
Accession:NM_001282863
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 111
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQFRLFSFALIILNCMDYSHCQGNRWRRSKRGCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFAPLEETMECVG
CEVGHWSEWGTCSRNNRTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKL
IERAQEQHSVFLATDRANQ*

Gene Symbol:RSPO2
Accession:NM_001317942
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRQYGECLHSCPSGYYGHRAPDMNRCARCRIENCDSCFSKDFCTKCKVGFYLHRGRCFDECPDGFAPLEETMECVEGCEV
GHWSEWGTCSRNNRTCGFKWGLETRTRQIVKKPVKDTILCPTIAESRRCKMTMRHCPGGKRTPKAKEKRNKKKKRKLIER
AQEQHSVFLATDRANQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003028096 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RSPO2 CLINVAR
OMIM 610575 CLINVAR