RGD:152051144 Rat Genome Database

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Variant: RGD:152051144 -  Homo sapiens

RGD ID: 152051144
RS ID: rs1575121446
ClinVar ID: CV1558286
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKIRAS1  RPL15  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 23,960,815
GRCh38 3 23,919,324
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1152t1:c.438T>C
NM_001377380.1:c.-139-7874A>G
NM_001253384.2:c.360+78T>C
NM_001253379.2:c.438T>C
More... 		02/24/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NKIRAS1
Accession:NM_001377380
Location:5UTRS;INTRON

Gene Symbol:RPL15
Accession:NM_002948
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAYKYIQELWRKKQSDVMRFLLRVRCWQYRQLSALHRAPRPTRPDKARRLGYKAKQGYVIYRIRVRRGGRKRPVPKGAT
YGKPVHHGVNQLKFARSLQSVAEERAGRHCGALRVLNSYWVGEDSTYKFFEVILIDPFHKAIRRNPDTQWITKPVHKHRE
MRGLTSAGRKSRGLGKGHKFHHTIGGSRRAAWRRRNTLQLHRYR*

Gene Symbol:RPL15
Accession:NM_001253379
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAYKYIQELWRKKQSDVMRFLLRVRCWQYRQLSALHRAPRPTRPDKARRLGYKAKQGYVIYRIRVRRGGRKRPVPKGAT
YGKPVHHGVNQLKFARSLQSVAEERAGRHCGALRVLNSYWVGEDSTYKFFEVILIDPFHKAIRRNPDTQWITKPVHKHRE
MRGLTSAGRKSRGLGKGHKFHHTIGGSRRAAWRRRNTLQLHRYR*

Gene Symbol:RPL15
Accession:NM_001253383
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAYKYIQELWRKKQSDVMRFLLRVRCWQYRQLSALHRAPRPTRPDKARRLGYKAKQGYVIYRIRVRRGGRKRPVPKGAT
YGKPVHHGVNQLKFARSLQSVAEERAGRHCGALRVLNSYWVGEDSTYKFFEVILIDPFHKAIRRNPDTQWITKPVHKHRE
MRGLTSAGRKSRGLGKGHKFHHTIGGSRRAAWRRRNTLQLHRYR*

Gene Symbol:RPL15
Accession:NM_001253382
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAYKYIQELWRKKQSDVMRFLLRVRCWQYRQLSALHRAPRPTRPDKARRLGYKAKQGYVIYRIRVRRGGRKRPVPKGAT
YGKPVHHGVNQLKFARSLQSVAEERAGRHCGALRVLNSYWVGEDSTYKFFEVILIDPFHKAIRRNPDTQWITKPVHKHRE
MRGLTSAGRKSRGLGKGHKFHHTIGGSRRAAWRRRNTLQLHRYR*

Gene Symbol:RPL15
Accession:NM_001253380
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGAYKYIQELWRKKQSDVMRFLLRVRCWQYRQLSALHRAPRPTRPDKARRLGYKAKQGYVIYRIRVRRGGRKRPVPKGAT
YGKPVHHGVNQLKFARSLQSVAEERAGRHCGALRVLNSYWVGEDSTYKFFEVILIDPFHKAIRRNPDTQWITKPVHKHRE
MRGLTSAGRKSRGLGKGHKFHHTIGGSRRAAWRRRNTLQLHRYR*

Gene Symbol:NKIRAS1
Accession:NM_020345
Location:INTRON

Gene Symbol:RPL15
Accession:NM_001253384
Location:INTRON

Gene Symbol:NKIRAS1
Accession:XM_024453460
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377365
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377363
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377362
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377361
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377364
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377355
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377354
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377352
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377370
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377359
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377360
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377351
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377353
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377367
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377369
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377368
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377371
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377366
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377372
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377358
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377356
Location:INTRON

Gene Symbol:NKIRAS1
Accession:NM_001377357
Location:INTRON

Gene Symbol:NKIRAS1
Accession:XM_047447998
Location:INTRON

Gene Symbol:NKIRAS1
Accession:XM_047447999
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002128329 CLINVAR
dbSNP (RS) rs1575121446 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NKIRAS1 CLINVAR
  RPL15 CLINVAR
OMIM 604174 CLINVAR
  604496 CLINVAR