rs1204464128 Rat Genome Database

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Variant: rs1204464128 -  Homo sapiens

RGD ID: 38465231
RS ID: rs1204464128
ClinVar ID: CV938215
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAI2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 72,301,547
GRCh38 17 74,305,408
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_023036.4:c.1177G>A
NP_001166281.1:p.Glu393Lys
NP_001340096.1:p.Glu393Lys
NP_075462.3:p.Glu393Lys
More... 		08/23/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAI2
Accession:NM_001353167
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVERNPVDTGIQCSISMSEHEANSERFEMETRGVNHVEGG
WPKDVNPLELEQTIRFRKKVEKDENYVNAIMQLGSIMEHCIKQNNAIDIYEEYFNDEEAMEVMEEDPSAKTINVFRDPQE
IKRAATHLSWHPDGNRKLAVAYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSPLVTLEFNPKDSHVLLGGCYNGQ
IACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKTGTECFSASTDGQVMWWDIRKMSEPTEVVILDITKKEQLENALGA
ISLEFESTLPTKFMVGTEQGIVISCNRKAKTSAEKIVCTFPGHHGPIYALQRNPFYPKNFLTVGDWTARIWSKDSRESSI
MWTKYHMAYLTDAAWSPVRPTVFFTTRMDGTLDIWDFMFEQCDPTLSLKVCDEALFCLRVQDNGCLIACGSQLGTTTLLE
VSPGLSTLQRNEKNVASSMFERETRREKILEARHREMRLKEKGKAEGRDEEQTDEELAVDLEALVSKAEEEFFDIIFAEL
KKKEADAIKLTPVPALFCTSGERKKRHCLSGSPPSGPTDKMPRYERAKEQRGREKKQRQQPSPEEDQVVEEGEEAAGEEG
DEEVEEDLA*

Gene Symbol:DNAI2
Accession:NM_023036
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVERNPVDTGIQCSISMSEHEANSERFEMETRGVNHVEGG
WPKDVNPLELEQTIRFRKKVEKDENYVNAIMQLGSIMEHCIKQNNAIDIYEEYFNDEEAMEVMEEDPSAKTINVFRDPQE
IKRAATHLSWHPDGNRKLAVAYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSPLVTLEFNPKDSHVLLGGCYNGQ
IACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKTGTECFSASTDGQVMWWDIRKMSEPTEVVILDITKKEQLENALGA
ISLEFESTLPTKFMVGTEQGIVISCNRKAKTSAEKIVCTFPGHHGPIYALQRNPFYPKNFLTVGDWTARIWSKDSRESSI
MWTKYHMAYLTDAAWSPVRPTVFFTTRMDGTLDIWDFMFEQCDPTLSLKVCDEALFCLRVQDNGCLIACGSQLGTTTLLE
VSPGLSTLQRNEKNVASSMFERETRREKILEARHREMRLKEKGKAEGRDEEQTDEELAVDLEALVSKAEEEFFDIIFAEL
KKKEADAIKLTPVPQQPSPEEDQVVEEGEEAAGEEGDEEVEEDLA*

Gene Symbol:DNAI2
Accession:XM_011525125
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVERNPVDTGIQCSISMSEHEANSERFEMETRGVNHVEGG
WPKDVNPLELEQTIRFRKKVEKDENYVNAIMQLGSIMEHCIKQNNAIDIYEEYFNDEEAMEVMEEDPSAKTINVFRDPQE
IKRAATHLSWHPDGNRKLAVAYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSPLVTLEFNPKDSHVLLGGCYNGQ
IACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKTGTECFSASTDGQVMWWDIRKMSEPTEVVILDITKKEQLENALGA
ISLEFESTLPTKFMVGTEQGIVISCNRKAKTSAEKIVCTFPGHHGPIYALQRNPFYPKNFLTVGDWTARIWSKDSRESSI
MWTKYHMAYLTDAAWSPVRPTVFFTTRMDGTLDIWDFMFEQCDPTLSLKVCDEALFCLRVQDNGCLIACGSQLGTTTLLE
VSPGLSTLQRNEKNVASSMFERETRREKILEARHREMRLKEKGKAEGRDEEQTDEELAVDLEALVSKAEEEFFDIIFAEL
KKKEADAIKLTPVPALFCTSGERKKRHCLSGSPPSGPTDKMPRYERAKEQRGREKKQRQQPSPEEDQVVEEGEEAAGEEG
DEEVEEDLA*

Gene Symbol:DNAI2
Accession:NM_001172810
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 393
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVERNPVDTGIQCSISMSEHEANSERFEMETRGVNHVEGG
WPKDVNPLELEQTIRFRKKVEKDENYVNAIMQLGSIMEHCIKQNNAIDIYEEYFNDEEAMEVMEEDPSAKTINVFRDPQE
IKRAATHLSWHPDGNRKLAVAYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSPLVTLEFNPKDSHVLLGGCYNGQ
IACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKTGTECFSASTDGQVMWWDIRKMSEPTEVVILDITKKEQLENALGA
ISLEFESTLPTKFMVGTEQGIVISCNRKAKTSAEKIVCTFPGHHGPIYALQRNPFYPKNFLTVGDWTARIWSKDSRESSI
MWTKYHMAYLTDAAWSPVRPTVFFTTRMDGTLDIWDFMFEQCDPTLSLKDNGCLIACGSQLGTTTLLEVSPGLSTLQRNE
KNVASSMFERETRREKILEARHREMRLKEKGKAEGRDEEQTDEELAVDLEALVSKAEEEFFDIIFAELKKKEADAIKLTP
VPQQPSPEEDQVVEEGEEAAGEEGDEEVEEDLA*

Gene Symbol:DNAI2
Accession:XR_007065396
Location:EXON;NON-CODING

Gene Symbol:DNAI2
Accession:XR_007065390
Location:EXON;NON-CODING

Gene Symbol:DNAI2
Accession:XR_007065395
Location:EXON;NON-CODING

Gene Symbol:DNAI2
Accession:NR_148379
Location:EXON;NON-CODING

Gene Symbol:DNAI2
Accession:XR_007065398
Location:EXON;NON-CODING

Gene Symbol:DNAI2
Accession:XR_007065397
Location:EXON;NON-CODING

Gene Symbol:DNAI2
Accession:XR_007065393
Location:EXON;NON-CODING

Gene Symbol:DNAI2
Accession:XR_007065389
Location:EXON;NON-CODING

Gene Symbol:DNAI2
Accession:XR_007065399
Location:EXON;NON-CODING

Gene Symbol:DNAI2
Accession:XR_007065391
Location:EXON;NON-CODING

Gene Symbol:DNAI2
Accession:XR_007065394
Location:EXON;NON-CODING

Gene Symbol:DNAI2
Accession:XR_007065388
Location:EXON;NON-CODING

Gene Symbol:DNAI2
Accession:XR_007065400
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001212614 CLINVAR
dbSNP (RS) rs1204464128 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene DNAI2 CLINVAR
OMIM 605483 CLINVAR