RGD:401876885 Rat Genome Database

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Variant: RGD:401876885 -  Homo sapiens

RGD ID: 401876885
ClinVar ID: CV2767751
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127821135  MS4A15  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 60,543,151
GRCh38 11 60,775,678
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_152717.3:c.407C>T
NM_001278242.2:c.563C>T
NM_001098835.2:c.686C>T
NG_122592.1:g.707C>T
More... 		08/19/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:MS4A15
Accession:XM_047426548
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRRGHVGIFFIEGGVPFWGGACFIISGSLSVAAEKNHTSCLVRSSLGTNILSVMAAFAGTAILLMDFGVTNRDVDRGYL
AVLTIFTVLEFFTAVIAMHFGCQAIHAQASAPVIFLPNAFSADFNIPSPAASAPPVYDNVAYAQGVV*

Gene Symbol:MS4A15
Accession:XM_006718459
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRRGHVGIFFIEGGVPFWGGACFIISGSLSVAAEKNHTSCLVRSSLGTNILSVMAAFAGTAILLMDFGVTNRDVDRGYL
AVLTIFTVLEFFTAVIAMHFGCQAIHAQASAPVIFLPNAFSADFNIPSPAASAPPVYDNVAYAQGVV*

Gene Symbol:MS4A15
Accession:XM_047426547
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAAPASNGVFVVIPPNNASGLCPPPAILPTSMCQPPGIMQFEEPPLGAQTPRATQPPDLRPVETFLTGEPKVLGFIISG
SLSVAAEKNHTSCLVRSSLGTNILSVMAAFAGTAILLMDFGVTNRDVDRGYLAVLTIFTVLEFFTAVIAMHFGCQAIHAQ
ASAPVIFLPNAFSADFNIPSPAASAPPVYDNVAYAQGVV*

Gene Symbol:MS4A15
Accession:NM_001098835
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAAPASNGVFVVIPPNNASGLCPPPAILPTSMCQPPGIMQFEEPPLGAQTPRATQPPDLRPVETFLTGEPKVLGTVQIL
IGLIHLGFGSVLLMVRRGHVGIFFIEGGVPFWGGACFIISGSLSVAAEKNHTSCLVRSSLGTNILSVMAAFAGTAILLMD
FGVTNRDVDRGYLAVLTIFTVLEFFTAVIAMHFGCQAIHAQASAPVIFLPNAFSADFNIPSPAASAPPVYDNVAYAQGVV
*

Gene Symbol:MS4A15
Accession:NM_152717
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVRRGHVGIFFIEGGVPFWGGACFIISGSLSVAAEKNHTSCLVRSSLGTNILSVMAAFAGTAILLMDFGVTNRDVDRGYL
AVLTIFTVLEFFTAVIAMHFGCQAIHAQASAPVIFLPNAFSADFNIPSPAASAPPVYDNVAYAQGVV*

Gene Symbol:MS4A15
Accession:XM_011544812
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 229
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAAPASNGVFVVIPPNNASGLCPPPAILPTSMCQPPGIMQFEEPPLGAQTPRATQPPDLRPVETFLTGEPKVLGTVQIL
IGLIHLGFGSVLLMVRRGHVGIFFIEGGVPFWGGACFIISGSLSVAAEKNHTSCLVRSSLGTNILSVMAAFAGTAILLMD
FGVTNRDVDRGYLAVLTIFTVLEFFTAVIAMHFGCQAIHAQASAPVIFLPNAFSADFNIPSPAASAPPVYDNVAYAQGVV
*

Gene Symbol:MS4A15
Accession:NM_001278242
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 188
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAAPASNGVFVVIPPNNASGLCPPPAILPTSMCQPPGIMQFEEPPLGAQTPRATQPPDLRPVETFLTGEPKVLGFIISG
SLSVAAEKNHTSCLVRSSLGTNILSVMAAFAGTAILLMDFGVTNRDVDRGYLAVLTIFTVLEFFTAVIAMHFGCQAIHAQ
ASAPVIFLPNAFSADFNIPSPAASAPPVYDNVAYAQGVV*

Gene Symbol:MS4A15
Accession:NR_103481
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004345879 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene MS4A15 CLINVAR