RGD:126761686 Rat Genome Database

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Variant: RGD:126761686 -  Homo sapiens

RGD ID: 126761686
RS ID: rs142411384
ClinVar ID: CV996909
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLUAP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 3,565,541
GRCh38 16 3,515,541
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024793.3:c.31G>A
NM_001330454.2:c.529G>A
NM_015041.3:c.529G>A
NG_047131.1:g.19597G>A
More... 		06/08/2020 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CLUAP1
Accession:NM_001330454
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFRDLRNFTEMMRALGYPRHISMENFRTPNFGLVSEVLLWLVKRYEPQTDIPPDVDTEQDRVFFIKAIAQFMATKAHIK
LNTKKLYQADGYAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSKIADLKAARQLASEITSKGASLYDLLGM
EVELREMRTEAIARPLKINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANLEAKIEKRKLELERNRKRLETLQSVRPC
FMDEYEKTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCLIQNKLKEEEKRLLKSGSNDDSDIDIQE
DDESDSELEERRLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNMEAAPALLGKCKTSSSKKQEDSEESEIDMEDDDDED
DDLEDESISLSPTKPNRRVRKSEPLDESDNDF*

Gene Symbol:CLUAP1
Accession:XM_017023073
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 105
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MATKAHIKLNTKKLYQADGYAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSKIADLKAARQLASEITSKGA
SLYDLLGMEVELREMRTEAIARPLKINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANLEAKIEKRKLELERNRKRLE
TLQSVRPCFMDEYEKTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCLIQNKLKEEEKRLLKSGSND
DSDIDIQEDDESDSELEERRLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNMEAAPALLGKCKTSSSKKQEDSEESEID
MEDDDDEDDDLEDESISLSPTKPNRRVRKSEPLDESDNDF*

Gene Symbol:CLUAP1
Accession:XM_047433800
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGQNPGGSPWSLWLGSGHIKQTALANWRVLLSDFTEMMRALGYPRHISMENFRTPNFGLVSEVLLWLVKRYEPQTDIP
PDVDTEQDRVFFIKAIAQFMATKAHIKLNTKKLYQADGYAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSK
IADLKAARQLASEITSKGASLYDLLGMEVELREMRTEAIARPLKINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANL
EAKIEKRKLELERNRKRLETLQSVRPCFMDEYEKTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEVTMTRT*

Gene Symbol:CLUAP1
Accession:NM_024793
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 11
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTEAIARPLKINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANLEAKIEKRKLELERNRKRLETLQSVRPCFMDEYE
KTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCLIQNKLKEEEKRLLKSGSNDDSDIDIQEDDESDS
ELEERRLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNEDSEESEIDMEDDDDEDDDLEDESISLSPTKPNRRVRKSEPL
DESDNDF*

Gene Symbol:CLUAP1
Accession:XM_047433798
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGQNPGGSPWSLWLGSGHIKQTALANWRVLLSDFTEMMRALGYPRHISMENFRTPNFGLVSEVLLWLVKRYEPQTDIP
PDVDTEQDRVFFIKAIAQFMATKAHIKLNTKKLYQADGYAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSK
IADLKAARQLASEITSKGASLYDLLGMEVELREMRTEAIARPLKINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANL
EAKIEKRKLELERNRKRLETLQSVRPCFMDEYEKTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCL
IQNKLKEEEKRLLKSGSNDDSDIDIQEDDESDSELEERRLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNEDSEESEID
MEDDDDEDDDLEDESISLSPTKPNRRVRKSEPLDESDNDF*

Gene Symbol:CLUAP1
Accession:XM_047433799
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMRALGYPRHISMENFRTPNFGLVSEVLLWLVKRYEPQTDIPPDVDTEQDRVFFIKAIAQFMATKAHIKLNTKKLYQADG
YAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSKIADLKAARQLASEITSKGASLYDLLGMEVELREMRTEA
IARPLKINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANLEAKIEKRKLELERNRKRLETLQSVRPCFMDEYEKTEEE
LQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCLIQNKLKEEEKRLLKSGSNDDSDIDIQEDDESDSELEER
RLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNMEAAPALLGKCKTSSSKKQEDSEESEIDMEDDDDEDDDLEDESISLS
PTKPNRRVRKSEPLDESDNDF*

Gene Symbol:CLUAP1
Accession:NM_015041
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 177
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSFRDLRNFTEMMRALGYPRHISMENFRTPNFGLVSEVLLWLVKRYEPQTDIPPDVDTEQDRVFFIKAIAQFMATKAHIK
LNTKKLYQADGYAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSKIADLKAARQLASEITSKGASLYDLLGM
EVELREMRTEAIARPLKINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANLEAKIEKRKLELERNRKRLETLQSVRPC
FMDEYEKTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCLIQNKLKEEEKRLLKSGSNDDSDIDIQE
DDESDSELEERRLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNEDSEESEIDMEDDDDEDDDLEDESISLSPTKPNRRV
RKSEPLDESDNDF*

Gene Symbol:CLUAP1
Accession:XM_047433797
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 204
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGRGQNPGGSPWSLWLGSGHIKQTALANWRVLLSDFTEMMRALGYPRHISMENFRTPNFGLVSEVLLWLVKRYEPQTDIP
PDVDTEQDRVFFIKAIAQFMATKAHIKLNTKKLYQADGYAVKELLKITSVLYNAMKTKGMEGSEIVEEDVNKFKFDLGSK
IADLKAARQLASEITSKGASLYDLLGMEVELREMRTEAIARPLKINETEKVMRIAIKEILTQVQKTKDLLNNVASDEANL
EAKIEKRKLELERNRKRLETLQSVRPCFMDEYEKTEEELQKQYDTYLEKFQNLTYLEQQLEDHHRMEQERFEEAKNTLCL
IQNKLKEEEKRLLKSGSNDDSDIDIQEDDESDSELEERRLPKPQTAMEMLMQGRPGKRIVGTMQGGDSDDNMEAAPALLG
KCKTSSSKKQEDSEESEIDMEDDDDEDDDLEDESISLSPTKPNRRVRKSEPLDESDNDF*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001309675 CLINVAR
dbSNP (RS) rs142411384 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CLUAP1 CLINVAR
OMIM 616787 CLINVAR