RGD:401757336 Rat Genome Database

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Variant: RGD:401757336 -  Homo sapiens

RGD ID: 401757336
ClinVar ID: CV2734954
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127891929  LOC127891930  NTN5  SEC1P  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 49,167,423
GRCh38 19 48,664,166
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.947G>A
NG_141765.1:g.101C>T
NG_141764.1:g.603C>T
NC_000019.10:g.48664166C>T
More... 		04/24/2023 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: R to H (nonsynonymous)
Amino Acid Position: 316
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVTFALLLLLGQATADPCYDPQGRPQFCLPPVTQLAAVAASCPQACALSPGNHLGARETCNGSLTLALGGPFLLTSVSL
RFCTPGPPALILSAAWASGGPWRLLWHRPAWPGALGGPERVTFHSTPGPKATVAASHLRVEFGGQAGLAAAGLRGRCQCH
GHAARCAARARPPRCHCRHHTTGPGCESCRPSHRDWPWRPATPRHPHPCLPCSCNQHARRCRFNSELFRLSGGRSGGVCE
RCRHHTAGRHCHYCQPGFWRDPSQPIFSRRACRACQCHPIGATGGTCNQTSGQCTCKLGVTGLTCNRCGPGYQQSHSPRM
PCQRIPEATTTLATTPGAYSSDPQCQNYCNMSDTRVHMSLRRYCQQDHEFHHLLQPDISEGWKR*

Gene Symbol:NTN5
Accession:NM_145807
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 316
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVTFALLLLLGQATADPCYDPQGRPQFCLPPVTQLAAVAASCPQACALSPGNHLGARETCNGSLTLALGGPFLLTSVSL
RFCTPGPPALILSAAWASGGPWRLLWHRPAWPGALGGPERVTFHSTPGPKATVAASHLRVEFGGQAGLAAAGLRGRCQCH
GHAARCAARARPPRCHCRHHTTGPGCESCRPSHRDWPWRPATPRHPHPCLPCSCNQHARRCRFNSELFRLSGGRSGGVCE
RCRHHTAGRHCHYCQPGFWRDPSQPIFSRRACRACQCHPIGATGGTCNQTSGQCTCKLGVTGLTCNRCGPGYQQSHSPRM
PCQRIPEATTTLATTPGAYSSDPQCQNYCNMSDTRVHMSLRRYCQQDHVLRAQVLASEAAGPAWQRLAVRVLAVYKQRAQ
PVRRGDQDAWVPRADLTCGCLRLQPGTDYLLLGSAVGDPDPTRLILDRHGLALPWRPRWARPLKRLQQEERAGGCRGVRA
PTPSPRPEH*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003297704 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene NTN5 CLINVAR