rs2144147960 Rat Genome Database

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Variant: rs2144147960 -  Homo sapiens

RGD ID: 127237960
RS ID: rs2144147960
ClinVar ID: CV1105361
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DNAI2  LOC105371891  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 72,310,310
GRCh38 17 74,314,171
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016865.1:g.44925A>G
NC_000017.11:g.74314171A>G
NC_000017.10:g.72310310A>G
NR_148379.2:n.1619A>G
More... 		10/14/2020 non-coding transcript variant likely benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DNAI2
Accession:NM_001353167
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 635
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVERNPVDTGIQCSISMSEHEANSERFEMETRGVNHVEGG
WPKDVNPLELEQTIRFRKKVEKDENYVNAIMQLGSIMEHCIKQNNAIDIYEEYFNDEEAMEVMEEDPSAKTINVFRDPQE
IKRAATHLSWHPDGNRKLAVAYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSPLVTLEFNPKDSHVLLGGCYNGQ
IACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKTGTECFSASTDGQVMWWDIRKMSEPTEVVILDITKKEQLENALGA
ISLEFESTLPTKFMVGTEQGIVISCNRKAKTSAEKIVCTFPGHHGPIYALQRNPFYPKNFLTVGDWTARIWSEDSRESSI
MWTKYHMAYLTDAAWSPVRPTVFFTTRMDGTLDIWDFMFEQCDPTLSLKVCDEALFCLRVQDNGCLIACGSQLGTTTLLE
VSPGLSTLQRNEKNVASSMFERETRREKILEARHREMRLKEKGKAEGRDEEQTDEELAVDLEALVSKAEEEFFDIIFAEL
KKKEADAIKLTPVPALFCTSGERKKRHCLSGSPPSGPTDKMPRYERAKEQRGREKKQRQQPSPEEDQVVEEGEEAAGEEG
DEEVEEDLA*

Gene Symbol:DNAI2
Accession:NM_023036
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 591
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVERNPVDTGIQCSISMSEHEANSERFEMETRGVNHVEGG
WPKDVNPLELEQTIRFRKKVEKDENYVNAIMQLGSIMEHCIKQNNAIDIYEEYFNDEEAMEVMEEDPSAKTINVFRDPQE
IKRAATHLSWHPDGNRKLAVAYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSPLVTLEFNPKDSHVLLGGCYNGQ
IACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKTGTECFSASTDGQVMWWDIRKMSEPTEVVILDITKKEQLENALGA
ISLEFESTLPTKFMVGTEQGIVISCNRKAKTSAEKIVCTFPGHHGPIYALQRNPFYPKNFLTVGDWTARIWSEDSRESSI
MWTKYHMAYLTDAAWSPVRPTVFFTTRMDGTLDIWDFMFEQCDPTLSLKVCDEALFCLRVQDNGCLIACGSQLGTTTLLE
VSPGLSTLQRNEKNVASSMFERETRREKILEARHREMRLKEKGKAEGRDEEQTDEELAVDLEALVSKAEEEFFDIIFAEL
KKKEADAIKLTPVPQQPSPEEDQVVEEGEEAAGEEGDEEVEEDLA*

Gene Symbol:DNAI2
Accession:NM_001172810
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 579
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVERNPVDTGIQCSISMSEHEANSERFEMETRGVNHVEGG
WPKDVNPLELEQTIRFRKKVEKDENYVNAIMQLGSIMEHCIKQNNAIDIYEEYFNDEEAMEVMEEDPSAKTINVFRDPQE
IKRAATHLSWHPDGNRKLAVAYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSPLVTLEFNPKDSHVLLGGCYNGQ
IACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKTGTECFSASTDGQVMWWDIRKMSEPTEVVILDITKKEQLENALGA
ISLEFESTLPTKFMVGTEQGIVISCNRKAKTSAEKIVCTFPGHHGPIYALQRNPFYPKNFLTVGDWTARIWSEDSRESSI
MWTKYHMAYLTDAAWSPVRPTVFFTTRMDGTLDIWDFMFEQCDPTLSLKDNGCLIACGSQLGTTTLLEVSPGLSTLQRNE
KNVASSMFERETRREKILEARHREMRLKEKGKAEGRDEEQTDEELAVDLEALVSKAEEEFFDIIFAELKKKEADAIKLTP
VPQQPSPEEDQVVEEGEEAAGEEGDEEVEEDLA*

Gene Symbol:DNAI2
Accession:XM_011525125
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 635
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVERNPVDTGIQCSISMSEHEANSERFEMETRGVNHVEGG
WPKDVNPLELEQTIRFRKKVEKDENYVNAIMQLGSIMEHCIKQNNAIDIYEEYFNDEEAMEVMEEDPSAKTINVFRDPQE
IKRAATHLSWHPDGNRKLAVAYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSPLVTLEFNPKDSHVLLGGCYNGQ
IACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKTGTECFSASTDGQVMWWDIRKMSEPTEVVILDITKKEQLENALGA
ISLEFESTLPTKFMVGTEQGIVISCNRKAKTSAEKIVCTFPGHHGPIYALQRNPFYPKNFLTVGDWTARIWSEDSRESSI
MWTKYHMAYLTDAAWSPVRPTVFFTTRMDGTLDIWDFMFEQCDPTLSLKVCDEALFCLRVQDNGCLIACGSQLGTTTLLE
VSPGLSTLQRNEKNVASSMFERETRREKILEARHREMRLKEKGKAEGRDEEQTDEELAVDLEALVSKAEEEFFDIIFAEL
KKKEADAIKLTPVPALFCTSGERKKRHCLSGSPPSGPTDKMPRYERAKEQRGREKKQRQQPSPEEDQVVEEGEEAAGEEG
DEEVEEDLA*

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

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

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

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

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

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

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

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

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

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

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

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

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

Gene Symbol:LOC105371891
Accession:XR_007065896
Location:INTRON;NON-CODING

Gene Symbol:LOC105371891
Accession:XR_934971
Location:INTRON;NON-CODING

Gene Symbol:LOC105371891
Accession:XR_007065895
Location:INTRON;NON-CODING

Gene Symbol:LOC105371891
Accession:XR_934970
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001422787 CLINVAR
dbSNP (RS) rs2144147960 CLINVAR
MedGen C0008780 CLINVAR
NCBI Gene DNAI2 CLINVAR
OMIM 605483 CLINVAR