RGD:8630502 Rat Genome Database

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Variant: RGD:8630502 -  Homo sapiens

RGD ID: 8630502
ClinVar ID: CV85657
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CMSS1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 99,891,239
GRCh38 3 100,172,395
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001167924.1:c.605T>G
NM_032359.3:c.659T>G
NC_000003.12:g.100172395T>G
NC_000003.11:g.99891239T>G
More...
missense|missense variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:CMSS1
Accession:NM_001167924
Location:EXON
Amino Acid Prediction: V to G (nonsynonymous)
Amino Acid Position: 202
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHGEASDGEGEGDTEVMQQETVPVPVPSEKTKQPKECFLIQPKERKENTTKTRKRRKKKITDVLAKSEPKPGLPEDLQKL
MKDYYSSRRLVIELEELNLPDSCFLKANDLTHSLSSYLKEICPKWVKLRKNHSEKKSVLMLIICSSAVRALELIRSMTAF
RGDGKVIKLFAKHIKVQAQVKLLEKRVVHLGVGTPGRIKELGKQGGLNLSPLKFLVFDWNWRDQKLRRMMDIPEIRKEVF
ELLEMGVLSLCKSESLKLGLF*

Gene Symbol:CMSS1
Accession:NM_032359
Location:EXON
Amino Acid Prediction: V to G (nonsynonymous)
Amino Acid Position: 220
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADDLGDEWWENQPTGAGSSPEASDGEGEGDTEVMQQETVPVPVPSEKTKQPKECFLIQPKERKENTTKTRKRRKKKITD
VLAKSEPKPGLPEDLQKLMKDYYSSRRLVIELEELNLPDSCFLKANDLTHSLSSYLKEICPKWVKLRKNHSEKKSVLMLI
ICSSAVRALELIRSMTAFRGDGKVIKLFAKHIKVQAQVKLLEKRVVHLGVGTPGRIKELGKQGGLNLSPLKFLVFDWNWR
DQKLRRMMDIPEIRKEVFELLEMGVLSLCKSESLKLGLF*

Variant Samples