RGD:38496678 Rat Genome Database

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Variant: RGD:38496678 -  Homo sapiens

RGD ID: 38496678
RS ID: rs147381045
ClinVar ID: CV944828
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RTN4IP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 107,050,781
GRCh38 6 106,602,906
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.337G>A
NM_032730.5:c.637G>A
NG_047205.1:g.32595G>A
NC_000006.12:g.106602906C>T
More...
09/07/2019 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:RTN4IP1
Accession:NM_032730
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMPAWVIDKYGKNEVLRFTQNMMMPIIHYPNEVIVKVHA
ASVNPIDVNMRSGYGATALNMKRDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVV
VSGNEVSHKPKSLTHTQAASLPYVALTAWSAINKVGGLNDKNCTGKRVLILGTSGGVGTFAIQVMKAWDAHVTAVCSQDA
SELVRKLGADDVIDYKSGSVEEQLKSLKPFDFILDNVGGSTETWAPDFLKKWSGATYVTLVTPFLLNMDRLGIADGMLQT
GVTVGSKALKHFWKGVHYRWAFFMASGPCLDDIAELVDAGKIRPVIEQTFPFSKVPEAFLKVERGHARGKTVINVV*

Gene Symbol:RTN4IP1
Accession:XM_017011376
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 213
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFLKTCVLRRNACTAVCFWRSKVVQKPSVRRISTTSPRSTVMPAWVIDKYGKNEVLRFTQNMMMPIIHYPNEVIVKVHA
ASVNPIDVNMRSGYGATALNMKRDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVV
VSGNEVSHKPKSLTHTQAASLPYVALTAWSAINKVGGLNDKNCTGKRVLILGTSGGVGTFAIQVMKAWDAHVTAVCSQDA
SELVRKLGADDVIDYKSGSVEEQLKSLKPISGKESIIAGHFSWPVAHV*

Gene Symbol:RTN4IP1
Accession:XM_011536192
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 133
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGTASTPEESKGGYGATALNMKRDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVV
VSGNEVSHKPKSLTHTQAASLPYVALTAWSAINKVGGLNDKNCTGKRVLILGTSGGVGTFAIQVMKAWDAHVTAVCSQDA
SELVRKLGADDVIDYKSGSVEEQLKSLKPFDFILDNVGGSTETWAPDFLKKWSGATYVTLVTPFLLNMDRLGIADGMLQT
GVTVGSKALKHFWKGVHYRWAFFMASGPCLDDIAELVDAGKIRPVIEQTFPFSKVPEAFLKVERGHARGKTVINVV*

Gene Symbol:RTN4IP1
Accession:NM_001318746
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRDPLHVKIKGEEFPLTLGRDVSGVVMECGLDVKYFKPGDEVWAAVPPWKQGTLSEFVVVSGNEVSHKPKSLTHTQAAS
LPYVALTAWSAINKVGGLNDKNCTGKRVLILGTSGGVGTFAIQVMKAWDAHVTAVCSQDASELVRKLGADDVIDYKSGSV
EEQLKSLKPFDFILDNVGGSTETWAPDFLKKWSGATYVTLVTPFLLNMDRLGIADGMLQTGVTVGSKALKHFWKGVHYRW
AFFMASGPCLDDIAELVDAGKIRPVIEQTFPFSKVPEAFLKVERGHARGKTVINVV*

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001226554 CLINVAR
dbSNP (RS) rs147381045 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene RTN4IP1 CLINVAR
OMIM 610502 CLINVAR