RGD:150500233 Rat Genome Database

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Variant: RGD:150500233 -  Homo sapiens

RGD ID: 150500233
RS ID: rs17851884
ClinVar ID: CV1235880
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NTN5  SEC1P  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 49,168,005
GRCh38 19 48,664,748
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.651C>T
NC_000019.10:g.48664748G>A
NC_000019.9:g.49168005G>A
NM_145807.2:c.651C>T
More... 		05/04/2021 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NTN5
Accession:NM_145807
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVTFALLLLLGQATADPCYDPQGRPQFCLPPVTQLAAVAASCPQACALSPGNHLGARETCNGSLTLALGGPFLLTSVSL
RFCTPGPPALILSAAWASGGPWRLLWHRPAWPGALGGPERVTFHSTPGPKATVAASHLRVEFGGQAGLAAAGLRGRCQCH
GHAARCAARARPPRCHCRHHTTGPGCESCRPSHRDWPWRPATPRHPHPCLPCSCNQQARRCRFNSELFRLSGGRSGGVCE
RCRHHTAGRHCHYCQPGFWRDPSQPIFSRRACRACQCHPIGATGGTCNQTSGQCTCKLGVTGLTCNRCGPGYQQSRSPRM
PCQRIPEATTTLATTPGAYSSDPQCQNYCNMSDTRVHMSLRRYCQQDHVLRAQVLASEAAGPAWQRLAVRVLAVYKQRAQ
PVRRGDQDAWVPRADLTCGCLRLQPGTDYLLLGSAVGDPDPTRLILDRHGLALPWRPRWARPLKRLQQEERAGGCRGVRA
PTPSPRPEH*

Gene Symbol:NTN5
Accession:XM_011526443
Location:EXON
Amino Acid Prediction: H to Q (nonsynonymous)
Amino Acid Position: 217
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPVTFALLLLLGQATADPCYDPQGRPQFCLPPVTQLAAVAASCPQACALSPGNHLGARETCNGSLTLALGGPFLLTSVSL
RFCTPGPPALILSAAWASGGPWRLLWHRPAWPGALGGPERVTFHSTPGPKATVAASHLRVEFGGQAGLAAAGLRGRCQCH
GHAARCAARARPPRCHCRHHTTGPGCESCRPSHRDWPWRPATPRHPHPCLPCSCNQQARRCRFNSELFRLSGGRSGGVCE
RCRHHTAGRHCHYCQPGFWRDPSQPIFSRRACRACQCHPIGATGGTCNQTSGQCTCKLGVTGLTCNRCGPGYQQSRSPRM
PCQRIPEATTTLATTPGAYSSDPQCQNYCNMSDTRVHMSLRRYCQQDHEFHHLLQPDISEGWKR*

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001656563 CLINVAR
dbSNP (RS) rs17851884 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NTN5 CLINVAR