RGD:15181935 Rat Genome Database

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Variant: RGD:15181935 -  Homo sapiens

RGD ID: 15181935
RS ID: rs150345358
ClinVar ID: CV699235
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RTN4IP1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 107,076,767
GRCh38 6 106,628,892
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+1435C>A
NM_032730.5:c.130C>A
NG_047205.1:g.6609C>A
NC_000006.12:g.106628892G>T
More... 		11/08/2018 intron variant benign none provided

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

Gene Symbol:RTN4IP1
Accession:XM_017011376
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMTAWVIDKYGKNEVLRFTQNMMMPIIHYPNEVIVKVHA
ASVNPIDVNMRSGYGATALNMKRDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVV
VSGNEVSHKPKSLTHTQAASLPYVALTAWSAINKVGGLNDKNCTGKRVLILGASGGVGTFAIQVMKAWDAHVTAVCSQDA
SELVRKLGADDVIDYKSGSVEEQLKSLKPISGKESIIAGHFSWPVAHV*

Gene Symbol:RTN4IP1
Accession:NM_032730
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 44
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMTAWVIDKYGKNEVLRFTQNMMMPIIHYPNEVIVKVHA
ASVNPIDVNMRSGYGATALNMKRDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVV
VSGNEVSHKPKSLTHTQAASLPYVALTAWSAINKVGGLNDKNCTGKRVLILGASGGVGTFAIQVMKAWDAHVTAVCSQDA
SELVRKLGADDVIDYKSGSVEEQLKSLKPFDFILDNVGGSTETWAPDFLKKWSGATYVTLVTPFLLNMDRLGIADGMLQT
GVTVGSKALKHFWKGVHYRWAFFMASGPCLDDIAELVDAGKIRPVIEQTFPFSKVPEAFLKVERGHARGKTVINVV*

Gene Symbol:RTN4IP1
Accession:XM_011536192
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000952096 CLINVAR
dbSNP (RS) rs150345358 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene RTN4IP1 CLINVAR
OMIM 610502 CLINVAR