RGD:13831797 Rat Genome Database

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Variant: RGD:13831797 -  Homo sapiens

RGD ID: 13831797
RS ID: rs1566932396
ClinVar ID: CV582295
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FAN1  MTMR10  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 31,222,842
GRCh38 15 30,930,639
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_055782.3:p.Val962Met
NC_000015.10:g.30930639G>A
NC_000015.9:g.31222842G>A
NM_014967.5:c.2884G>A
More... 		09/16/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:FAN1
Accession:XM_011521370
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 568
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSYRIPLLVISSQESKTTGQKLYVRLFQRKLSWIKMTKLEYEEIALDLTPVIEELTNAGFLQTESELQELSEVLELLSA
PELKSLAKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILKRAKALAGQSVRICKGPRAVFSRILLLFSL
TDSMEDEDAACGGQGQLSTVLLVNLGRMEFPSYTINRKTHIFQDRDDLIRYAAATHMLSDISSAMANGNWEEAKELAQCA
KRDWNRLKNHPSLRCHEDLPLFLRCFTVGWIYTRILSRFVEILQRLHMYEEAVRELESLLSQRIYCPDSRGRWWDRLALN
LHQHLKRLEPTIKCITEGLADPEVRTGHRLSLYQRAVRLRESPSCKKFKHLFQQLPEMAVQDVKHVTITGRLCPQRGMCK
SVFVMEAGEAADPTTVLCSVEELALAHYRRSGFDQGIHGEGSTFSTLYGLLLWDIIFMDGIPDVFRNACQAFPLDLCTDS
FFTSRRPALEARLQLIHDAPEESLRAWVAATWHEQEGRVASLVSWDRFTSLQQAQDLVSCLGGPVLSGVCRHLAADFRHC
RGGLPDLMVWNSQSRHFKLVEVKGPNDRLSHKQMIWLAELQKLGAEVEVCHVVAVGAKSQSLS*

Gene Symbol:FAN1
Accession:XM_017022013
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 405
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEDEDAACGGQGQLSTVLLVNLGRMEFPSYTINRKTHIFQDRDDLIRYAAATHMLSDISSAMANGNWEEAKELAQCAKRD
WNRLKNHPSLRCHEDLPLFLRCFTVGWIYTRILSRFVEILQRLHMYEEAVRELESLLSQRIYCPDSRGRWWDRLALNLHQ
HLKRLEPTIKCITEGLADPEVRTGHRLSLYQRAVRLRESPSCKKFKHLFQQLPEMAVQDVKHVTITGRLCPQRGMCKSVF
VMEAGEAADPTTVLCSVEELALAHYRRSGFDQGIHGEGSTFSTLYGLLLWDIIFMDGIPDVFRNACQAFPLDLCTDSFFT
SRRPALEARLQLIHDAPEESLRAWVAATWHEQEGRVASLVSWDRFTSLQQAQDLVSCLGGPVLSGVCRHLAADFRHCRGG
LPDLMVWNSQSRHFKLVEVKGPNDRLSHKQMIWLAELQKLGAEVEVCHVVAVGAKSQSLS*

Gene Symbol:FAN1
Accession:NM_014967
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 962
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMSEGKPPDKKRPRRSLSISKNKKKASNSIISCFNNAPPAKLACPVCSKMVPRYDLNRHLDEMCANNDFVQVDPGQVGLI
NSNVSMVDLTSVTLEDVTPKKSPPPKTNLTPGQSDSAKREVKQKISPYFKSNDVVCKNQDELRNRSVKVICLGSLASKLS
RKYVKAKKSIDKDEEFAGSSPQSSKSTVVKSLIDNSSEIEDEDQILENSSQKENVFKCDSLKEECIPEHMVRGSKIMEAE
SQKATRECEKSALTPGFSDNAIMLFSPDFTLRNTLKSTSEDSLVKQECIKEVVEKREACHCEEVKMTVASEAKIQLSDSE
AKSHSSADDASAWSNIQEAPLQDDSCLNNDIPHSIPLEQGSSCNGPGQTTGHPYYLRSFLVVLKTVLENEDDMLLFDEQE
KGIVTKFYQLSATGQKLYVRLFQRKLSWIKMTKLEYEEIALDLTPVIEELTNAGFLQTESELQELSEVLELLSAPELKSL
AKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILKRAKALAGQSVRICKGPRAVFSRILLLFSLTDSMED
EDAACGGQGQLSTVLLVNLGRMEFPSYTINRKTHIFQDRDDLIRYAAATHMLSDISSAMANGNWEEAKELAQCAKRDWNR
LKNHPSLRCHEDLPLFLRCFTVGWIYTRILSRFVEILQRLHMYEEAVRELESLLSQRIYCPDSRGRWWDRLALNLHQHLK
RLEPTIKCITEGLADPEVRTGHRLSLYQRAVRLRESPSCKKFKHLFQQLPEMAVQDVKHVTITGRLCPQRGMCKSVFVME
AGEAADPTTVLCSVEELALAHYRRSGFDQGIHGEGSTFSTLYGLLLWDIIFMDGIPDVFRNACQAFPLDLCTDSFFTSRR
PALEARLQLIHDAPEESLRAWVAATWHEQEGRVASLVSWDRFTSLQQAQDLVSCLGGPVLSGVCRHLAADFRHCRGGLPD
LMVWNSQSRHFKLVEVKGPNDRLSHKQMIWLAELQKLGAEVEVCHVVAVGAKSQSLS*

Gene Symbol:FAN1
Accession:XM_024449874
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 567
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPEVLGSQGWLQASSAATGQKLYVRLFQRKLSWIKMTKLEYEEIALDLTPVIEELTNAGFLQTESELQELSEVLELLSAP
ELKSLAKTFHLVNPNGQKQQLVDAFLKLAKQRSVCTWGKNKPGIGAVILKRAKALAGQSVRICKGPRAVFSRILLLFSLT
DSMEDEDAACGGQGQLSTVLLVNLGRMEFPSYTINRKTHIFQDRDDLIRYAAATHMLSDISSAMANGNWEEAKELAQCAK
RDWNRLKNHPSLRCHEDLPLFLRCFTVGWIYTRILSRFVEILQRLHMYEEAVRELESLLSQRIYCPDSRGRWWDRLALNL
HQHLKRLEPTIKCITEGLADPEVRTGHRLSLYQRAVRLRESPSCKKFKHLFQQLPEMAVQDVKHVTITGRLCPQRGMCKS
VFVMEAGEAADPTTVLCSVEELALAHYRRSGFDQGIHGEGSTFSTLYGLLLWDIIFMDGIPDVFRNACQAFPLDLCTDSF
FTSRRPALEARLQLIHDAPEESLRAWVAATWHEQEGRVASLVSWDRFTSLQQAQDLVSCLGGPVLSGVCRHLAADFRHCR
GGLPDLMVWNSQSRHFKLVEVKGPNDRLSHKQMIWLAELQKLGAEVEVCHVVAVGAKSQSLS*

Gene Symbol:MTMR10
Accession:NM_017762
Location:INTRON

Gene Symbol:FAN1
Accession:NM_001146096
Location:INTRON

Gene Symbol:MTMR10
Accession:XM_047432770
Location:INTRON

Gene Symbol:MTMR10
Accession:XM_047432773
Location:INTRON

Gene Symbol:FAN1
Accession:XM_047432250
Location:INTRON

Gene Symbol:MTMR10
Accession:XM_011521737
Location:INTRON

Gene Symbol:MTMR10
Accession:XM_011521738
Location:INTRON

Gene Symbol:FAN1
Accession:NM_001146095
Location:INTRON

Gene Symbol:FAN1
Accession:NM_001146094
Location:INTRON

Gene Symbol:FAN1
Accession:XM_011521372
Location:INTRON

Gene Symbol:MTMR10
Accession:XM_047432772
Location:INTRON

Gene Symbol:MTMR10
Accession:XM_047432771
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000722480 CLINVAR
dbSNP (RS) rs1566932396 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene FAN1 CLINVAR
  MTMR10 CLINVAR
OMIM 613534 CLINVAR