RGD:15136758 Rat Genome Database

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Variant: RGD:15136758 -  Homo sapiens

RGD ID: 15136758
RS ID: rs778576590
ClinVar ID: CV773719
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KIAA1210  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 118,242,310
GRCh38 X 119,108,347
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001394962.1:c.482A>C
NP_001381891.1:p.Lys161Thr
NM_020721.1:c.902A>C
NC_000023.11:g.119108347T>G
More... 		08/11/2018 missense variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:KIAA1210
Accession:NM_020721
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 301
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRAGWTPRGFSAFHASLLPGRHPYLAHLGPRDRGARIGSRAYSQGCCSCLWLTYKGKKEGSTKGELGPAAVTDLEIPSYS
RGFLPCTPRFPTTWCRGPGCFCGTAVIAGNLGDLARIVGPSHHASQLLLLQEQDSGNHPTMAESLSEISDSLDVLEAGDE
GKKKCKFKALKSFFVKKKEKEAEDTQEEEMLELSLSSSNINISSLQPVRENQPTKARAKSSMGSKALSHDSIFMLGPEPE
RSASKMFPSMDPQRGRPQQRSHISRTLPKPRSKVPGVVSGAMSGAVLQNVPTSAVWVAGPTITENPPSRRRRLSIIPPVI
QPEIISKNLVEISLDDESPKNPQKKALPHKSLTATQSFSELSSGPDCSQSLTAFATLASTSSTQLPIGFSTPATTQGCLD
SSAARHKMTLNPRKQKKNLQVIIRGLPVWFSHFQGILEGSLQCVTQTLETPNLDEPLPVEPKEEEPNLPLVSEEEKSITK
PKEINEKKLGMDSADSSSQKQNNKTEMYDKKTTDQAPNTDASRSQGYPMSAAYGRRWRRKGASVSGLSGCEFKGRSLKQS
SEGYGLGDRAGSSPTNKTARNVPFSHLSLEKDNMEQPTTSQPETTTPQGLLSDKDDMGRRNAGIDFGSRKASAAQPIPEN
MDNSMVSDPQPYHEDAASGAEKTEARASLSLMVESLSTTQEEAILSVAAEAQVFMNPSHIQLEDQEAFSFDLQKAQSKME
SAQDVQTICKEKPSGNVHQTFTASVLGMTSTTAKGDVYAKTLPPRSLFQSSRKPDAEEVSSDSENIPEEGDGSEELAHGH
SSQSLGKFEDEQEVFSESKSFVEDLSSSEEELDLRCLSQALEEPEDAEVFTESSSYVEKYNTSDDCSSSEEDLPLRHPAQ
ALGKPKNQQEVSSASNNTPEEQNDFMQQLPSRCPSQPIMNPTVQQQVPTSSVGTSIKQSDSVEPIPPRHPFQPWVNPKVE
QEVSSSPKSMAVEESISMKPLPPKLLCQPLMNPKVQQNMFSGSEDIAVERVISVEPLLPRYSPQSLTDPQIRQISESTAV
EEGTYVEPLPPRCLSQPSERPKFLDSMSTSAEWSSPVAPTPSKYTSPPWVTPKFEELYQLSAHPESTTVEEDISKEQLLP
RHLSQLTVGNKVQQLSSNFERAAIEADISGSPLPPQYATQFLKRSKVQEMTSRLEKMAVEGTSNKSPIPRRPTQSFVKFM
AQQIFSESSALKRGSDVAPLPPNLPSKSLSKPEVKHQVFSDSGSANPKGGISSKMLPMKHPLQSLGRPEDPQKVFSYSER
APGKCSSFKEQLSPRQLSQALRKPEYEQKVSPVSASSPKEWRNSKKQLPPKHSSQASDRSKFQPQMSSKGPVNVPVKQSS
GEKHLPSSSPFQQQVHSSSVNAAARRSVFESNSDNWFLGRDEAFAIKTKKFSQGSKNPIKSIPAPATKPGKFTIAPVRQT
STSGGIYSKKEDLESGDGNNNQHANLSNQDDVEKLFGVRLKRAPPSQKYKSEKQDNFTQLASVPSGPISSSVGRGHKIRS
TSQGLLDAAGNLTKISYVADKQQSRPKSESMAKKQPACKTPGKPAGQQSDYAVSEPVWITMAKQKQKSFKAHISVKELKT
KSNAGADAETKEPKYEGAGSANENQPKKMFTSSVHKQEKTAQMKPPKPTKSVGFEAQKILQVPAMEKETKRSSTLPAKFQ
NPVEPIEPVWFSLARKKAKAWSHMAEITQ*

Gene Symbol:KIAA1210
Accession:NM_001394962
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAESLSEISDSLDVLEAGDEGKKKCKFKALKSFFVKKKEKEAEDTQEEEMLELSLSSSNINISSLQPVRENQPTKARAKS
SMGSKALSHDSIFMLGPEPERSASKMFPSMDPQRGRPQQRSHISRTLPKPRSKVPGVVSGAMSGAVLQNVPTSAVWVAGP
TITENPPSRRRRLSIIPPVIQPEIISKNLVEISLDDESPKNPQKKALPHKSLTATQSFSELSSGPDCSQSLTAFATLAST
SSTQLPIGFSTPATTQGCLDSSAARHKMTLNPRKQKKNLQVIVEPKEEEPNLPLVSEEEKSITKPKEINEKKLGMDSADS
SSQKQNNKTEMYDKKTTDQAPNTDASRSQGYPMSAAYGRRWRRKGASVSGLSGCEFKGRSLKQSSEGYGLGDRAGSSPTN
KTARNVPFSHLSLEKDNMEQPTTSQPETTTPQGLLSDKDDMGRRNAGIDFGSRKASAAQPIPENMDNSMVSDPQPYHEDA
ASGAEKTEARASLSLMVESLSTTQEEAILSVAAEAQVFMNPSHIQLEDQEAFSFDLQKAQSKMESAQDVQTICKEKPSGN
VHQTFTASVLGMTSTTAKGDVYAKTLPPRSLFQSSRKPDAEEVSSDSENIPEEGDGSEELAHGHSSQSLGKFEDEQEVFS
ESKSFVEDLSSSEEELDLRCLSQALEEPEDAEVFTESSSYVEKYNTSDDCSSSEEDLPLRHPAQALGKPKNQQEVSSASN
NTPEEQNDFMQQLPSRCPSQPIMNPTVQQQVPTSSVGTSIKQSDSVEPIPPRHPFQPWVNPKVEQEVSSSPKSMAVEESI
SMKPLPPKLLCQPLMNPKVQQNMFSGSEDIAVERVISVEPLLPRYSPQSLTDPQIRQISESTAVEEGTYVEPLPPRCLSQ
PSERPKFLDSMSTSAEWSSPVAPTPSKYTSPPWVTPKFEELYQLSAHPESTTVEEDISKEQLLPRHLSQLTVGNKVQQLS
SNFERAAIEADISGSPLPPQYATQFLKRSKVQEMTSRLEKMAVEGTSNKSPIPRRPTQSFVKFMAQQIFSESSALKRGSD
VAPLPPNLPSKSLSKPEVKHQVFSDSGSANPKGGISSKMLPMKHPLQSLGRPEDPQKVFSYSERAPGKCSSFKEQLSPRQ
LSQALRKPEYEQKVSPVSASSPKEWRNSKKQLPPKHSSQASDRSKFQPQMSSKGPVNVPVKQSSGEKHLPSSSPFQQQVH
SSSVNAAARRSVFESNSDNWFLGRDEAFAIKTKKFSQGSKNPIKSIPAPATKPGKFTIAPVRQTSTSGGIYSKKEDLESG
DGNNNQHANLSNQDDVEKLFGVRLKRAPPSQKYKSEKQDNFTQLASVPSGPISSSVGRGHKIRSTSQGLLDAAGNLTKIS
YVADKQQSRPKSESMAKKQPACKTPGKPAGQQSDYAVSEPVWITMAKQKQKSFKAHISVKELKTKSNAGADAETKEPKYE
GAGSANENQPKKMFTSSVHKQEKTAQMKPPKPTKSVGFEAQKILQVPAMEKETKRSSTLPAKFQNPVEPIEPVWFSLARK
KAKAWSHMAEITQ*

Gene Symbol:KIAA1210
Accession:XM_017029689
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASFHACLKISDHPTMAESLSEISDSLDVLEAGDEGKKKCKFKALKSFFVKKKEKEAEDTQEEEMLELSLSSSNINISSL
QPVRENQPTKARAKSSMGSKALSHDSIFMLGPEPERSASKMFPSMDPQRGRPQQRSHISRTLPKPRSKVPGVVSGAMSGA
VLQNVPTSAVWVAGPTITENPPSRRRRLSIIPPVIQPEIISKNLVEISLDDESPKNPQKKALPHKSLTATQVEPKEEEPN
LPLVSEEEKSITKPKEINEKKLGMDSADSSSQKQNNKTEMYDKKTTDQAPNTDASRSQGYPMSAAYGRRWRRKGASVSGL
SGCEFKGRSLKQSSEGYGLGDRAGSSPTNKTARNVPFSHLSLEKDNMEQPTTSQPETTTPQGLLSDKDDMGRRNAGIDFG
SRKASAAQPIPENMDNSMVSDPQPYHEDAASGAEKTEARASLSLMVESLSTTQEEAILSVAAEAQVFMNPSHIQLEDQEA
FSFDLQKAQSKMESAQDVQTICKEKPSGNVHQTFTASVLGMTSTTAKGDVYAKTLPPRSLFQSSRKPDAEEVSSDSENIP
EEGDGSEELAHGHSSQSLGKFEDEQEVFSESKSFVEDLSSSEEELDLRCLSQALEEPEDAEVFTESSSYVEKYNTSDDCS
SSEEDLPLRHPAQALGKPKNQQEVSSASNNTPEEQNDFMQQLPSRCPSQPIMNPTVQQQVPTSSVGTSIKQSDSVEPIPP
RHPFQPWVNPKVEQEVSSSPKSMAVEESISMKPLPPKLLCQPLMNPKVQQNMFSGSEDIAVERVISVEPLLPRYSPQSLT
DPQIRQISESTAVEEGTYVEPLPPRCLSQPSERPKFLDSMSTSAEWSSPVAPTPSKYTSPPWVTPKFEELYQLSAHPEST
TVEEDISKEQLLPRHLSQLTVGNKVQQLSSNFERAAIEADISGSPLPPQYATQFLKRSKVQEMTSRLEKMAVEGTSNKSP
IPRRPTQSFVKFMAQQIFSESSALKRGSDVAPLPPNLPSKSLSKPEVKHQVFSDSGSANPKGGISSKMLPMKHPLQSLGR
PEDPQKVFSYSERAPGKCSSFKEQLSPRQLSQALRKPEYEQKVSPVSASSPKEWRNSKKQLPPKHSSQASDRSKFQPQMS
SKGPVNVPVKQSSGEKHLPSSSPFQQQVHSSSVNAAARRSVFESNSDNWFLGRDEAFAIKTKKFSQGSKNPIKSIPAPAT
KPGKFTIAPVRQTSTSGGIYSKKEDLESGDGNNNQHANLSNQDDVEKLFGVRLKRAPPSQKYKSEKQDNFTQLASVPSGP
ISSSVGRGHKIRSTSQGLLDAAGNLTKISYVADKQQSRPKSESMAKKQPACKTPGKPAGQQSDYAVSEPVWITMAKQKQK
SFKAHISVKELKTKSNAGADAETKEPKYEGAGSANENQPKKMFTSSVHKQEKTAQMKPPKPTKSVGFEAQKILQVPAMEK
ETKRSSTLPAKFQNPVEPIEPVWFSLARKKAKAWSHMAEITQ*

Gene Symbol:KIAA1210
Accession:XM_017029688
Location:EXON
Amino Acid Prediction: K to T (nonsynonymous)
Amino Acid Position: 176
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASFHACLKISDHPTMAESLSEISDSLDVLEAGDEGKKKCKFKALKSFFVKKKEKEAEDTQEEEMLELSLSSSNINISSL
QPVRENQPTKARAKSSMGSKALSHDSIFMLGPEPERSASKMFPSMDPQRGRPQQRSHISRTLPKPRSKVPGVVSGAMSGA
VLQNVPTSAVWVAGPTITENPPSRRRRLSIIPPVIQPEIISKNLVEISLDDESPKNPQKKALPHKSLTATQSFSELSSGP
DCSQSLTAFATLASTSSTQLPIGFSTPATTQGCLDSSAARHKMTLNPRKQKKNLQVIVEPKEEEPNLPLVSEEEKSITKP
KEINEKKLGMDSADSSSQKQNNKTEMYDKKTTDQAPNTDASRSQGYPMSAAYGRRWRRKGASVSGLSGCEFKGRSLKQSS
EGYGLGDRAGSSPTNKTARNVPFSHLSLEKDNMEQPTTSQPETTTPQGLLSDKDDMGRRNAGIDFGSRKASAAQPIPENM
DNSMVSDPQPYHEDAASGAEKTEARASLSLMVESLSTTQEEAILSVAAEAQVFMNPSHIQLEDQEAFSFDLQKAQSKMES
AQDVQTICKEKPSGNVHQTFTASVLGMTSTTAKGDVYAKTLPPRSLFQSSRKPDAEEVSSDSENIPEEGDGSEELAHGHS
SQSLGKFEDEQEVFSESKSFVEDLSSSEEELDLRCLSQALEEPEDAEVFTESSSYVEKYNTSDDCSSSEEDLPLRHPAQA
LGKPKNQQEVSSASNNTPEEQNDFMQQLPSRCPSQPIMNPTVQQQVPTSSVGTSIKQSDSVEPIPPRHPFQPWVNPKVEQ
EVSSSPKSMAVEESISMKPLPPKLLCQPLMNPKVQQNMFSGSEDIAVERVISVEPLLPRYSPQSLTDPQIRQISESTAVE
EGTYVEPLPPRCLSQPSERPKFLDSMSTSAEWSSPVAPTPSKYTSPPWVTPKFEELYQLSAHPESTTVEEDISKEQLLPR
HLSQLTVGNKVQQLSSNFERAAIEADISGSPLPPQYATQFLKRSKVQEMTSRLEKMAVEGTSNKSPIPRRPTQSFVKFMA
QQIFSESSALKRGSDVAPLPPNLPSKSLSKPEVKHQVFSDSGSANPKGGISSKMLPMKHPLQSLGRPEDPQKVFSYSERA
PGKCSSFKEQLSPRQLSQALRKPEYEQKVSPVSASSPKEWRNSKKQLPPKHSSQASDRSKFQPQMSSKGPVNVPVKQSSG
EKHLPSSSPFQQQVHSSSVNAAARRSVFESNSDNWFLGRDEAFAIKTKKFSQGSKNPIKSIPAPATKPGKFTIAPVRQTS
TSGGIYSKKEDLESGDGNNNQHANLSNQDDVEKLFGVRLKRAPPSQKYKSEKQDNFTQLASVPSGPISSSVGRGHKIRST
SQGLLDAAGNLTKISYVADKQQSRPKSESMAKKQPACKTPGKPAGQQSDYAVSEPVWITMAKQKQKSFKAHISVKELKTK
SNAGADAETKEPKYEGAGSANENQPKKMFTSSVHKQEKTAQMKPPKPTKSVGFEAQKILQVPAMEKETKRSSTLPAKFQN
PVEPIEPVWFSLARKKAKAWSHMAEITQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000943129 CLINVAR
dbSNP (RS) rs778576590 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene KIAA1210 CLINVAR
OMIM 300995 CLINVAR