rs201331285 Rat Genome Database

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Variant: rs201331285 -  Homo sapiens

RGD ID: 38467679
RS ID: rs201331285
ClinVar ID: CV920964
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NCR1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 55,418,149
GRCh38 19 54,906,791
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_001138930.2:p.Leu113=
NP_004820.2:p.Leu113=
NM_001145457.3:c.339G>A
NM_001145458.3:c.339G>A
More... 		06/01/2020 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NCR1
Accession:XM_047439727
Location:5UTRS;INTRON

Gene Symbol:NCR1
Accession:NM_004829
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSTLPALLCVGLCLSQRISAQQQTLPKPFIWAEPHFMVPKEKQVTICCQGNYGAVEYQLHFEGSLFAVDRPKPPERINK
VQFYIPDMNSRMAGQYSCIYRVGELWSEPSNLLDLVVTEMYDTPTLSVHPGPEVISGEKVTFYCRLDTATSMFLLLKEGR
SSHVQRGYGKVQAEFPLGPVTTAHRGTYRCFGSYNNHAWSFPSEPVKLLVTGDIENTSLAPEDPTFPADTWGTYLLTTET
GLQKDHALWDHTAQNLLRMGLAFLVLVALVWFLVEDWLSRKRTRERASRASTWEGRRRLNTQTL*

Gene Symbol:NCR1
Accession:NM_001145458
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSTLPALLCVGLCLSQRISAQQQTLPKPFIWAEPHFMVPKEKQVTICCQGNYGAVEYQLHFEGSLFAVDRPKPPERINK
VQFYIPDMNSRMAGQYSCIYRVGELWSEPSNLLDLVVTEMYDTPTLSVHPGPEVISGEKVTFYCRLDTATSMFLLLKEGR
SSHVQRGYGKVQAEFPLGPVTTAHRGTYRCFGSYNNHAWSFPSEPVKLLVTGDIENTSLAPEDPTFPDHALWDHTAQNLL
RMGLAFLVLVALVWFLVEDWLSRKRTRERASRASTWEGRRRLNTQTL*

Gene Symbol:NCR1
Accession:XM_011527530
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSTLPALLCVGLCLSQRISAQQQTLPKPFIWAEPHFMVPKEKQVTICCQGNYGAVEYQLHFEGSLFAVDRPKPPERINK
VQFYIPDMNSRMAGQYSCIYRVGELWSEPSNLLDLVVTEMYDTPTLSVHPGPEVISGEKVTFYCRLDTATSMFLLLKEGR
SSHVQRGYGKVQAEFPLGPVTTAHRGTYRCFGSYNNHAWSFPSEPVKLLVTGDIENTSLAPEDPTFPET*

Gene Symbol:NCR1
Accession:XM_011527529
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSTLPALLCVGLCLSQRISAQQQTLPKPFIWAEPHFMVPKEKQVTICCQGNYGAVEYQLHFEGSLFAVDRPKPPERINK
VQFYIPDMNSRMAGQYSCIYRVGELWSEPSNLLDLVVTEMYDTPTLSVHPGPEVISGEKVTFYCRLDTATSMFLLLKEGR
SSHVQRGYGKVQAEFPLGPVTTAHRGTYRCFGSYNNHAWSFPSEPVKLLVTGDIENTSLAPEDPTFPANSTRELHVHVEP
*

Gene Symbol:NCR1
Accession:NM_001145457
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 113
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSTLPALLCVGLCLSQRISAQQQTLPKPFIWAEPHFMVPKEKQVTICCQGNYGAVEYQLHFEGSLFAVDRPKPPERINK
VQFYIPDMNSRMAGQYSCIYRVGELWSEPSNLLDLVVTEMYDTPTLSVHPGPEVISGEKVTFYCRLDTATSMFLLLKEGR
SSHVQRGYGKVQAEFPLGPVTTAHRGTYRCFGSYNNHAWSFPSEPVKLLVTGDIENTSLAPEDPTFPDTWGTYLLTTETG
LQKDHALWDHTAQNLLRMGLAFLVLVALVWFLVEDWLSRKRTRERASRASTWEGRRRLNTQTL*

Gene Symbol:NCR1
Accession:NM_001242356
Location:INTRON

Gene Symbol:NCR1
Accession:NM_001242357
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001200422 CLINVAR
dbSNP (RS) rs201331285 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NCR1 CLINVAR
OMIM 604530 CLINVAR