RGD:8626575 Rat Genome Database

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Variant: RGD:8626575 -  Homo sapiens

RGD ID: 8626575
ClinVar ID: CV81719
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAB11FIP1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 37,730,118
GRCh38 8 37,872,600
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_025151.4:c.1622+1915T>G
NM_001002814.2:c.2202T>G
NC_000008.11:g.37872600A>C
NC_000008.10:g.37730118A>C
More... 		missense|intron|missense variant|intron variant not provided Malignant melanoma, somatic

Variant Details
Variant Transcripts
Gene Symbol:RAB11FIP1
Accession:NM_001002814
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 734
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLMVSAGRGLGAVWSPTHVQVTVLQARGLRAKGPGGTSDAYAVIQVGKEKYATSVSERSLGAPVWREEATFELPSLLSS
GPAAAATLQLTVLHRALLGLDKFLGRAEVDLRDLHRDQGRRKTQWYKLKSKPGKKDKERGEIEVDIQFMRNNMTASMFDL
SMKDKSRNPFGKLKDKIKGKNKDSGSDTASAIIPSTTPSVDSDDESVVKDKKKKSKIKTLLSKSNLQKTPLSQSMSVLPT
SKPEKVLLRPGDFQSQWDEDDNEDESSSASDVMSHKRTASTDLKQLNQVNFTLPKKEGLSFLGGLRSKNDVLSRSNVCIN
GNHVYLEQPEAKGEIKDSSPSSSPSPKGFRKKHLFSSTENLAAGSWKEPAEGGGLSSDRQLSESSTKDSLKSMTLPSYRP
APLVSGDLRENMAPANSEATKEAKESKKPESRRSSLLSLMTGKKDVAKGSEGENPLTVPGREKEGMLMGVKPGEDASGPA
EDLVRRSEKDTAAVVSRQGSSLNLFEDVQITEPEAEPESKSEPRPPISSPRAPQTRAVKPRLEVSPEAQPTARLPSPTDS
PSSLPPLPSSSGQASVPSELGHGADTQSSESPSVFSSLSSPIAAPISTSTPIESWPLVDRGQAKSEGPPLLPKAELQTES
LTPVPNSGSSALGSLFKQPSFPANKGTEDSLMGRTRETGTEKNTSSLELEESLPEQPETGRQEEELPRFPCKKQDYSPSS
GEAQEVPFALSLSRDGAVSPVGELAAGGDRDLESQAGSLVESKARDAAEEVAPPLPMGASVPSIDSMMRKLEEMGLNLRK
DQKKTKKRVSFSEQLFTEEAVAGAALLVEGHSSCPQELNPAWSVAGNASDGEPPESPHAEDSERESVTTPGPATCGAPAS
PADHLLLPSQEESFSEVPMSEASSAKDTPLFRMEGEDALVTQYQSKASDHEGLLSDPLSDLQLVSDFKSPIMADLNLSLP
SIPEVASDDERIDQVEDDGDQVEDDGETAKSSTLDIGALSLGLVVPCPERGKGPSGEADRLVLGEGLCDFRLQAPQASVT
APSEQTTEFGIHKPHLGKSSSLDKQLPGPSGGEEEKPMGNGSPSPPPGTSLDNPVPSPSPSEIFPVTHSFPSSAHSDTHH
TSTAESQKKATAEGSAGRVENFGKRKPLLQAWVSPSETHPVSAQPGAGTGSAKHRLHPVKPMNAMATKVANCSLGTATII
SENLNNEVMMKKYSPSDPAFAYAQLTHDELIQLVLKQKETISKKEFQVRELEDYIDNLLVRVMEETPNILRIPTQVGKKA
GKM*

Gene Symbol:RAB11FIP1
Accession:XM_017013869
Location:EXON
Amino Acid Prediction: S to R (nonsynonymous)
Amino Acid Position: 734
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSLMVSAGRGLGAVWSPTHVQVTVLQARGLRAKGPGGTSDAYAVIQVGKEKYATSVSERSLGAPVWREEATFELPSLLSS
GPAAAATLQLTVLHRALLGLDKFLGRAEVDLRDLHRDQGRRKTQWYKLKSKPGKKDKERGEIEVDIQFMRNNMTASMFDL
SMKDKSRNPFGKLKDKIKGKNKDSGSDTASAIIPSTTPSVDSDDESVVKDKKKKSKIKTLLSKSNLQKTPLSQSMSVLPT
SKPEKVLLRPGDFQSQWDEDDNEDESSSASDVMSHKRTASTDLKQLNQVNFTLPKKEGLSFLGGLRSKNDVLSRSNVCIN
GNHVYLEQPEAKGEIKDSSPSSSPSPKGFRKKHLFSSTENLAAGSWKEPAEGGGLSSDRQLSESSTKDSLKSMTLPSYRP
APLVSGDLRENMAPANSEATKEAKESKKPESRRSSLLSLMTGKKDVAKGSEGENPLTVPGREKEGMLMGVKPGEDASGPA
EDLVRRSEKDTAAVVSRQGSSLNLFEDVQITEPEAEPESKSEPRPPISSPRAPQTRAVKPRLEVSPEAQPTARLPSPTDS
PSSLPPLPSSSGQASVPSELGHGADTQSSESPSVFSSLSSPIAAPISTSTPIESWPLVDRGQAKSEGPPLLPKAELQTES
LTPVPNSGSSALGSLFKQPSFPANKGTEDSLMGRTRETGTEKNTSSLELEESLPEQPETGRQEEELPRFPCKKQDYSPSS
GEAQEVPFALSLSRDGAVSPVGELAAGGDRDLESQAGSLVESKARDAAEEVAPPLPMGASVPSIDSMMRKLEEMGLNLRK
DQKKTKKRVSFSEQLFTEEAVAGAALLVEGHSSCPQELNPAWSVAGNASDGEPPESPHAEDSERESVTTPGPATCGAPAS
PADHLLLPSQEESFSEVPMSEASSAKDTPLFRMEGEDALVTQYQSKASDHEGLLSDPLSDLQLVSDFKSPIMADLNLSLP
SIPEVASDDERIDQVEDDGDQVEDDGETAKSSTLDIGALSLGLVVPCPERGKGPSGEADRLVLGEGLCDFRLQAPQASVT
APSEQTTEFGIHKPHLGKSSSLDKQLPGPSGGEEEKPMGNGSPSPPPGTSLDNPVPSPSPSEIFPVTHSFPSSAHSDTHH
TSTAESQKKATAEGSAGRVENFGKRKPLLQAWVSPSETHPVSAQPGAGTGSAKHR*

Gene Symbol:RAB11FIP1
Accession:NM_025151
Location:INTRON

Variant Samples