RGD:401736106 Rat Genome Database

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Variant: RGD:401736106 -  Homo sapiens

RGD ID: 401736106
ClinVar ID: CV2703044
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NRSN2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 333,953
GRCh38 20 353,309
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NR_136649.2:n.247G>A
NM_024958.2:c.289G>A
NP_001310609.1:p.Glu97Lys
NP_001310610.1:p.Glu97Lys
More... 		05/17/2023 intron variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:NRSN2
Accession:NM_001323682
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPSCNRSCSCSRGPSVEDGKWYGVRSYLHLFYEDCAGTALSDDPEGPPVLCPRRPWPSLCWKISLSSGTLLLLLGVAAL
TTGYAVPPKLEGIGEGKFLVLDQRAADYNQALGTCRLAGTALCVAAGVLLAICLFWAMIGWLSQDTKAEPLDPEADSHVE
VFGDEPEQQLSPIFRNASGQSWFSPPASPFGQSSVQTIQPKRDS*

Gene Symbol:NRSN2
Accession:NM_001323681
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPSCNRSCSCSRGPSVEDGKWYGVRSYLHLFYEDCAGTALSDDPEGPPVLCPRRPWPSLCWKISLSSGTLLLLLGVAAL
TTGYAVPPKLEGIGEGKFLVLDQRAADYNQALGTCRLAGTALCVAAGVLLAICLFWAMIGWLSQDTKAEPLDPEADSHVE
VFGDEPEQQLSPIFRNASGQSWFSPPASPFGQSSVQTIQPKRDS*

Gene Symbol:NRSN2
Accession:NM_001323685
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPSCNRSCSCSRGPSVEDGKWYGVRSYLHLFYEDCAGTALSDDPEGPPVLCPRRPWPSLCWKISLSSGTLLLLLGVAAL
TTGYAVPPKLEGIGEGKFLVLDQRAADYNQALGTCRLAGTALCVAAGVLLAICLFWAMIGWLSQDTKAEPLDPEADSHVE
VFGDEPEQQLSPIFRNASGQSWFSPPASPFGQSSVQTIQPKRDS*

Gene Symbol:NRSN2
Accession:NM_024958
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPSCNRSCSCSRGPSVEDGKWYGVRSYLHLFYEDCAGTALSDDPEGPPVLCPRRPWPSLCWKISLSSGTLLLLLGVAAL
TTGYAVPPKLEGIGEGKFLVLDQRAADYNQALGTCRLAGTALCVAAGVLLAICLFWAMIGWLSQDTKAEPLDPEADSHVE
VFGDEPEQQLSPIFRNASGQSWFSPPASPFGQSSVQTIQPKRDS*

Gene Symbol:NRSN2
Accession:NM_001323684
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPSCNRSCSCSRGPSVEDGKWYGVRSYLHLFYEDCAGTALSDDPEGPPVLCPRRPWPSLCWKISLSSGTLLLLLGVAAL
TTGYAVPPKLEGIGEGKFLVLDQRAADYNQALGTCRLAGTALCVAAGVLLAICLFWAMIGWLSQDTKAEPLDPEADSHVE
VFGDEPEQQLSPIFRNASGQSWFSPPASPFGQSSVQTIQPKRDS*

Gene Symbol:NRSN2
Accession:NM_001323680
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPSCNRSCSCSRGPSVEDGKWYGVRSYLHLFYEDCAGTALSDDPEGPPVLCPRRPWPSLCWKISLSSGTLLLLLGVAAL
TTGYAVPPKLEGIGEGKFLVLDQRAADYNQALGTCRLAGTALCVAAGVLLAICLFWAMIGWLSQDTKAEPLDPEADSHVE
VFGDEPEQQLSPIFRNASGQSWFSPPASPFGQSSVQTIQPKRDS*

Gene Symbol:NRSN2
Accession:NM_001323683
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 97
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMPSCNRSCSCSRGPSVEDGKWYGVRSYLHLFYEDCAGTALSDDPEGPPVLCPRRPWPSLCWKISLSSGTLLLLLGVAAL
TTGYAVPPKLEGIGEGKFLVLDQRAADYNQALGTCRLAGTALCVAAGVLLAICLFWAMIGWLSQDTKAEPLDPEADSHVE
VFGDEPEQQLSPIFRNASGQSWFSPPASPFGQSSVQTIQPKRDS*

Gene Symbol:NRSN2
Accession:NR_136649
Location:EXON;NON-CODING

Gene Symbol:NRSN2
Accession:NM_001323679
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004321348 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene NRSN2 CLINVAR
OMIM 610666 CLINVAR