RGD:8637911 Rat Genome Database

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Variant: RGD:8637911 -  Homo sapiens

RGD ID: 8637911
ClinVar ID: CV93137
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC112268307  MTMR8  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 63,488,430
GRCh38 X 64,268,550
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017677.3:c.2102C>T
NG_016567.1:g.131904C>T
NC_000023.11:g.64268550G>A
NC_000023.10:g.63488430G>A
More... 		06/02/2014 missense|missense variant not provided Malignant melanoma, somatic; MELANOMA, CUTANEOUS MALIGNANT; MELANOMA, MALIGNANT, SOMATIC

Variant Details
Variant Transcripts
Gene Symbol:MTMR8
Accession:NM_017677
Location:EXON
Amino Acid Prediction: S to F (nonsynonymous)
Amino Acid Position: 701
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDHITVPKVENVKLVDRYVSKKPANGILYLTATHLIYVEASGAARKETWIALHHIATVEKLPITSLGCPLTLRCKNFRVA
HFVLDSDLVCHEVYISLLKLSQPALPEDLYAFSYNPKSSKEMRESGWKLIDPISDFGRMGIPNRNWTITDANRNYEICST
YPPEIVVPKSVTLGTVVGSSKFRSKERVPVLSYLYKENNAAICRCSQPLSGFYTRCVDDELLLEAISQTNPGSQFMYVVD
TRPKLNAMANRAAGKGYENEDNYANIRFRFMGIENIHVMRSSLQKLLEVCELKTPTMSEFLSGLESSGWLRHIKAIMDAG
IFITKAVKVEKASVLVHCSDGWDRTAQVCSVASILLDPFYRTFKGLMILIEKEWISMGHKFSQRCGHLDGDSKEVSPIFT
QFLDCIWQLMEQFPCAFEFNENFLLEIHDHVFSCQFGNFLGNCQKDREDLRVYEKTHSVWPFLVQRKPDFRNPLYKGFTM
YGVLNPSTVPYNIQFWCGMYNRFDKGLQPKQSMLESLLEIKKQRAMLETDVHELEKKLKVRDEPPEEICTCSQLGNILSQ
HLGSPLTNPLGFMGINGDLNTLMENGTLSREGGLRAQMDQVKSQGADLHHNCCEIVGSLRAINISGDVGISEAMGISGDM
CTFEATGFSKDLGICGAMDISEATGISGNLGISEARGFSGDMGILGDTGISKASTKEADYFKHQ*

Gene Symbol:LOC112268307
Accession:XM_047442706
Location:INTRON

Gene Symbol:LOC112268307
Accession:XM_047442705
Location:INTRON

Variant Samples