RGD:126733411 Rat Genome Database

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Variant: RGD:126733411 -  Homo sapiens

RGD ID: 126733411
RS ID: rs2065941923
ClinVar ID: CV1001274
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CCDC22  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 49,093,636
GRCh38 X 49,237,169
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014008.5:c.134T>A
NP_054727.1:p.Ile45Asn
NG_009095.2:g.1198A>T
NG_021311.2:g.6705T>A
More... 		10/01/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CCDC22
Accession:NM_014008
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRVNNPAVGSGLSPLLPLAMSARFRLAMSLAQACMDLGY
PLELGYQNFLYPSEPDLRDLLLFLAERLPTDASEDADQPAGDSAILLRAIGSQIRDQLALPWVPPHLRTPKLQHLQGSAL
QKPFHASRLVVPELSSRGEPREFQASPLLLPVPTQVPQPVGRVASLLEHHALQLCQQTGRDRPGDEDWVHRTSRLPPQED
TRAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELLQAWGAGAKTGAPKGSRFTHSEKFTFHLEPQAQATQVSDVPATSR
RPEQVTWAAQEQELESLREQLEGVNRSIEEVEADMKTLGVSFVQAESECRHSKLSTAEREQALRLKSRAVELLPDGTANL
AKLQLVVENSAQRVIHLAGQWEKHRVPLLAEYRHLRKLQDCRELESSRRLAEIQELHQSVRAAAEEARRKEEVYKQLMSE
LETLPRDVSRLAYTQRILEIVGNIRKQKEEITKILSDTKELQKEINSLSGKLDRTFAVTDELVFKDAKKDDAVRKAYKYL
AALHENCSQLIQTIEDTGTIMREVRDLEEQIETELGKKTLSNLEKIREDYRALRQENAGLLGRVREA*

Gene Symbol:CCDC22
Accession:XM_005272599
Location:EXON
Amino Acid Prediction: I to N (nonsynonymous)
Amino Acid Position: 45
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEEADRILIHSLRQAGTAVPPDVQTLRAFTTELVVEAVVRCLRVNNPAVGSGLSPLLPLAMSARFRLAMSLAQACMDLGY
PLELGYQNFLYPSEPDLRDLLLFLAERLPTDASEDADQPAGDSAILLRAIGSQIRDQLALPWVPPHLRTPKLQHLQGSAL
QKPFHASRLVVPELSSREPREFQASPLLLPVPTQVPQPVGRVASLLEHHALQLCQQTGRDRPGDEDWVHRTSRLPPQEDT
RAQRQRLQKQLTEHLRQSWGLLGAPIQARDLGELLQAWGAGAKTGAPKGSRFTHSEKFTFHLEPQAQATQVSDVPATSRR
PEQVTWAAQEQELESLREQLEGVNRSIEEVEADMKTLGVSFVQAESECRHSKLSTAEREQALRLKSRAVELLPDGTANLA
KLQLVVENSAQRVIHLAGQWEKHRVPLLAEYRHLRKLQDCRELESSRRLAEIQELHQSVRAAAEEARRKEEVYKQLMSEL
ETLPRDVSRLAYTQRILEIVGNIRKQKEEITKILSDTKELQKEINSLSGKLDRTFAVTDELVFKDAKKDDAVRKAYKYLA
ALHENCSQLIQTIEDTGTIMREVRDLEEQIETELGKKTLSNLEKIREDYRALRQENAGLLGRVREA*

Gene Symbol:CCDC22
Accession:XR_430506
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001311074 CLINVAR
dbSNP (RS) rs2065941923 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CCDC22 CLINVAR
OMIM 300859 CLINVAR