RGD:38468099 Rat Genome Database

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Variant: RGD:38468099 -  Homo sapiens

RGD ID: 38468099
RS ID: rs1298801755
ClinVar ID: CV944830
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RTN4IP1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 107,076,664
GRCh38 6 106,628,789
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001318746.1:c.-27+1538T>G
NM_032730.5:c.233T>G
NG_047205.1:g.6712T>G
NC_000006.12:g.106628789A>C
More... 		09/23/2019 intron variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RTN4IP1
Accession:NM_001318746
Location:5UTRS;INTRON

Gene Symbol:RTN4IP1
Accession:NM_032730
Location:EXON
Amino Acid Prediction: V to G (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMPAWVIDKYGKNEVLRFTQNMMMPIIHYPNEVIVKGHA
ASVNPIDVNMRSGYGATALNMKRDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVV
VSGNEVSHKPKSLTHTQAASLPYVALTAWSAINKVGGLNDKNCTGKRVLILGASGGVGTFAIQVMKAWDAHVTAVCSQDA
SELVRKLGADDVIDYKSGSVEEQLKSLKPFDFILDNVGGSTETWAPDFLKKWSGATYVTLVTPFLLNMDRLGIADGMLQT
GVTVGSKALKHFWKGVHYRWAFFMASGPCLDDIAELVDAGKIRPVIEQTFPFSKVPEAFLKVERGHARGKTVINVV*

Gene Symbol:RTN4IP1
Accession:XM_017011376
Location:EXON
Amino Acid Prediction: V to G (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMPAWVIDKYGKNEVLRFTQNMMMPIIHYPNEVIVKGHA
ASVNPIDVNMRSGYGATALNMKRDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVV
VSGNEVSHKPKSLTHTQAASLPYVALTAWSAINKVGGLNDKNCTGKRVLILGASGGVGTFAIQVMKAWDAHVTAVCSQDA
SELVRKLGADDVIDYKSGSVEEQLKSLKPISGKESIIAGHFSWPVAHV*

Gene Symbol:RTN4IP1
Accession:XM_011536192
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001230542 CLINVAR
dbSNP (RS) rs1298801755 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RTN4IP1 CLINVAR
OMIM 610502 CLINVAR