RGD:15109626 Rat Genome Database

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Variant: RGD:15109626 -  Homo sapiens

RGD ID: 15109626
RS ID: rs200291862
ClinVar ID: CV720769
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKX3-2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 13,545,931
GRCh38 4 13,544,307
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001180.1:p.Pro36=
NM_001189.4:c.108C>T
NG_023192.1:g.5184C>T
NC_000004.12:g.13544307G>A
More... 		07/16/2018 synonymous variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NKX3-2
Accession:XM_047416049
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVRGANTLTSFSIQAILNKKEERGGLAAPEGRPAPGGTAASVAAAPAVCCWRLFGERDAGALGGAEDSLLASPAGTRTA
AGRTAESPEGWDSDSALSEENESRRRCADARGASGAGLAGGSLSLGQPVCELAASKDLEEEAAGRSDSEMSASVSGDRSP
RTEDDGVGPRGAHVSALCSGAGGGGGSGPAGVAEEEEEPAAPKPRKKRSRAAFSHAQVFELERRFNHQRYLSGPERADLA
ASLKLTETQVKIWFQNRRYKTKRRQMAADLLASAPAAKKVAVKVLVRDDQRQYLPGEVLRPPSLLPLQPSYYYPYYCLPG
WALSTCAAAAGTQ*

Gene Symbol:NKX3-2
Accession:NM_001189
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVRGANTLTSFSIQAILNKKEERGGLAAPEGRPAPGGTAASVAAAPAVCCWRLFGERDAGALGGAEDSLLASPAGTRTA
AGRTAESPEGWDSDSALSEENESRRRCADARGASGAGLAGGSLSLGQPVCELAASKDLEEEAAGRSDSEMSASVSGDRSP
RTEDDGVGPRGAHVSALCSGAGGGGGSGPAGVAEEEEEPAAPKPRKKRSRAAFSHAQVFELERRFNHQRYLSGPERADLA
ASLKLTETQVKIWFQNRRYKTKRRQMAADLLASAPAAKKVAVKVLVRDDQRQYLPGEVLRPPSLLPLQPSYYYPYYCLPG
WALSTCAAAAGTQ*

Gene Symbol:NKX3-2
Accession:XM_047416050
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 36
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVRGANTLTSFSIQAILNKKEERGGLAAPEGRPAPGGTAASVAAAPAVCCWRLFGERDAGALGGAEDSLLASPAGTRTA
AGRTAESPEGWDSDSALSEENESRRRCADARGASGAGLAGGSLSLGQPVCELAASKDLEEEAAGRSDSEMSASVSGDRSP
RTEDDGVGPRGAHVSALCSGAGGGGGSGPAGVAEEEEEPAAPKPRKKRSRAAFSHAQVFELERRFNHQRYLSGPERADLA
ASLKLTETQVKIWFQNRRYKTKRRQMAADLLASAPAAKKVAVKVLVRDDQRQYLPGEVLRPPSLLPLQPSYYYPYYCLPG
WALSTCAAAAGTQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000893905 CLINVAR
dbSNP (RS) rs200291862 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NKX3-2 CLINVAR
OMIM 602183 CLINVAR