RGD:156200213 Rat Genome Database

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Variant: RGD:156200213 -  Homo sapiens

RGD ID: 156200213
ClinVar ID: CV2365511
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NTN5  SEC1P  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 49,174,129
GRCh38 19 48,670,872
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_145807.4:c.115G>C
NC_000019.10:g.48670872C>G
NC_000019.9:g.49174129C>G
NM_145807.1:c.115G>C
More... 		01/03/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NTN5
Accession:XM_011526443
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVTFALLLLLGQATADPCYDPQGRPQFCLPPVTQLAALAASCPQACALSPGNHLGARETCNGSLTLALGGPFLLTSVSL
RFCTPGPPALILSAAWASGGPWRLLWHRPAWPGALGGPERVTFHSTPGPKATVAASHLRVEFGGQAGLAAAGLRGRCQCH
GHAARCAARARPPRCHCRHHTTGPGCESCRPSHRDWPWRPATPRHPHPCLPCSCNQHARRCRFNSELFRLSGGRSGGVCE
RCRHHTAGRHCHYCQPGFWRDPSQPIFSRRACRACQCHPIGATGGTCNQTSGQCTCKLGVTGLTCNRCGPGYQQSRSPRM
PCQRIPEATTTLATTPGAYSSDPQCQNYCNMSDTRVHMSLRRYCQQDHEFHHLLQPDISEGWKR*

Gene Symbol:NTN5
Accession:NM_145807
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVTFALLLLLGQATADPCYDPQGRPQFCLPPVTQLAALAASCPQACALSPGNHLGARETCNGSLTLALGGPFLLTSVSL
RFCTPGPPALILSAAWASGGPWRLLWHRPAWPGALGGPERVTFHSTPGPKATVAASHLRVEFGGQAGLAAAGLRGRCQCH
GHAARCAARARPPRCHCRHHTTGPGCESCRPSHRDWPWRPATPRHPHPCLPCSCNQHARRCRFNSELFRLSGGRSGGVCE
RCRHHTAGRHCHYCQPGFWRDPSQPIFSRRACRACQCHPIGATGGTCNQTSGQCTCKLGVTGLTCNRCGPGYQQSRSPRM
PCQRIPEATTTLATTPGAYSSDPQCQNYCNMSDTRVHMSLRRYCQQDHVLRAQVLASEAAGPAWQRLAVRVLAVYKQRAQ
PVRRGDQDAWVPRADLTCGCLRLQPGTDYLLLGSAVGDPDPTRLILDRHGLALPWRPRWARPLKRLQQEERAGGCRGVRA
PTPSPRPEH*

Gene Symbol:SEC1P
Accession:NR_004401
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002985160 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene NTN5 CLINVAR