RGD:156056721 Rat Genome Database

Advanced Search (OLGA)

Variant: RGD:156056721 - Homo sapiens

RGD ID:

156056721

ClinVar ID:

CV2266642

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC105372093 SLC14A1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	18	43,319,203
GRCh38	18	45,739,238

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001146037.1:c.907G>A LRG_802:g.57214G>A NG_011775.4:g.57214G>A NC_000018.10:g.45739238G>A More...	03/11/2022	missense variant	uncertain significance	AllHighlyPenetrant

Variant Details

Variant Transcripts

Gene Symbol:	SLC14A1
Accession:	NM_001128588
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGRSLIGGAGDARHGPVWKDPFGTKAGDAARRGIARLSLALADGSQEQEPEEEIAMEDSPTMVRVDSPTMVRGENQVSP CQGRRCFPKALGYVTGDMKELANQLKDKPVVLQFIDWILRGISQVVFVNNPVSGILILVGLLVQNPWWALTGWLGTVVST LMALLLSQDRSLIASGLYGYNATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMAL SMYLSATGHYNPFFPAKLVIPITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLRAILLSSPLMCLHAAIGS LLGIAAGLSLSAPFEDIYFGLWGFNSSLACIAMGGMFMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACTWPFCL ATLLFLIMTTKNSNIYKMPLSKVTYPEENRIFYLQAKKRMVESPL*

Gene Symbol:	SLC14A1
Accession:	NM_001146036
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDSPTMVRVDSPTMVRGENQVSPCQGRRCFPKALGYVTGDMKELANQLKDKPVVLQFIDWILRGISQVVFVNNPVSGIL ILVGLLVQNPWWALTGWLGTVVSTLMALLLSQDRSLIASGLYGYNATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIF SSALNSMLSKWDLPVFTLPFNMALSMYLSATGHYNPFFPAKLVIPITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPW TGGIFLRAILLSSPLMCLHAAIGSLLGIAAGLSLSAPFEDIYFGLWGFNSSLACIAMGGMFMALTWQTHLLALGCALFTA YLGVGMANFMAEVGLPACTWPFCLATLLFLIMTTKNSNIYKMPLSKVTYPEENRIFYLQAKKRMVESPL*

Gene Symbol:	SLC14A1
Accession:	NM_015865
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	247

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEDSPTMVRVDSPTMVRGENQVSPCQGRRCFPKALGYVTGDMKELANQLKDKPVVLQFIDWILRGISQVVFVNNPVSGIL ILVGLLVQNPWWALTGWLGTVVSTLMALLLSQDRSLIASGLYGYNATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIF SSALNSMLSKWDLPVFTLPFNMALSMYLSATGHYNPFFPAKLVIPITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPW TGGIFLRAILLSSPLMCLHAAIGSLLGIAAGLSLSAPFEDIYFGLWGFNSSLACIAMGGMFMALTWQTHLLALGCALFTA YLGVGMANFMAEVGLPACTWPFCLATLLFLIMTTKNSNIYKMPLSKVTYPEENRIFYLQAKKRMVESPL*

Gene Symbol:	SLC14A1
Accession:	NM_001146037
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGRSLIGGAGDARHGPVWKDPFGTKAGDAARRGIARLSLALADGSQEQEPEEEIAMEDSPTMVRVDSPTMVRGENQVSP CQGRRCFPKALGYVTGDMKELANQLKDKPVVLQFIDWILRGISQVVFVNNPVSGILILVGLLVQNPWWALTGWLGTVVST LMALLLSQDRSLIASGLYGYNATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMAL SMYLSATGHYNPFFPAKLVIPITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLRAILLSSPLMCLHAAIGS LLGIAAGLSLSAPFEDIYFGLWGFNSSLACIAMGGMFMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACTWPFCL ATLLFLIMTTKNSNIYKMPLSKVTYPEENRIFYLQAKKRMVESPL*

Gene Symbol:	SLC14A1
Accession:	XM_005258329
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGRSLIGGAGDARHGPVWKDPFGTKAGDAARRGIARLSLALADGSQEQEPEEEIAMEDSPTMVRVDSPTMVRGENQVSP CQGRRCFPKALGYVTGDMKELANQLKDKPVVLQFIDWILRGISQVVFVNNPVSGILILVGLLVQNPWWALTGWLGTVVST LMALLLSQDRSLIASGLYGYNATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMAL SMYLSATGHYNPFFPAKLVIPITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLRAILLSSPLMCLHAAIGS LLGIAAGLSLSAPFEDIYFGLWGFNSSLACIAMGGMFMALTWQTHLLALGCALFTAYLGVGMANFMAEGTCERRIVGKKK QA*

Gene Symbol:	SLC14A1
Accession:	XM_005258333
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	115

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMALSMYLSATGHYNPFFPAKLVIPITTAPNI SWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLRAILLSSPLMCLHAAIGSLLGIAAGLSLSAPFEDIYFGLWGFNSSL ACIAMGGMFMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACTWPFCLATLLFLIMTTKNSNIYKMPLSKVTYPEE NRIFYLQAKKRMVESPL*

Gene Symbol:	SLC14A1
Accession:	XM_006722526
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	282

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFVGPDTAPYEIKDQNILMVALQTLMAKEPEEEIAMEDSPTMVRVDSPTMVRGENQVSPCQGRRCFPKALGYVTGDMKEL ANQLKDKPVVLQFIDWILRGISQVVFVNNPVSGILILVGLLVQNPWWALTGWLGTVVSTLMALLLSQDRSLIASGLYGYN ATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMALSMYLSATGHYNPFFPAKLVIP ITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLRAILLSSPLMCLHAAIGSLLGIAAGLSLSAPFEDIYFGL WGFNSSLACIAMGGMFMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACTWPFCLATLLFLIMTTKNSNIYKMPLS KVTYPEENRIFYLQAKKRMVESPL*

Gene Symbol:	SLC14A1
Accession:	XM_011526144
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGRSLIGGAGDARHGPVWKDPFGTKAGDAARRGIARLSLALADGSQEQEPEEEIAMEDSPTMVRVDSPTMVRGENQVSP CQGRRCFPKALGYVTGDMKELANQLKDKPVVLQFIDWILRGISQVVFVNNPVSGILILVGLLVQNPWWALTGWLGTVVST LMALLLSQDRSLIASGLYGYNATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMAL SMYLSATGHYNPFFPAKLVIPITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLRAILLSSPLMCLHAAIGS LLGIAAGLSLSAPFEDIYFGLWGFNSSLACIAMGGMFMALTWQTHLLALGCGNV*

Gene Symbol:	SLC14A1
Accession:	XM_011526142
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	282

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFVGPDTAPYEIKDQNILMVALQTLMAKEPEEEIAMEDSPTMVRVDSPTMVRGENQVSPCQGRRCFPKALGYVTGDMKEL ANQLKDKPVVLQFIDWILRGISQVVFVNNPVSGILILVGLLVQNPWWALTGWLGTVVSTLMALLLSQDRSLIASGLYGYN ATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMALSMYLSATGHYNPFFPAKLVIP ITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLRAILLSSPLMCLHAAIGSLLGIAAGLSLSAPFEDIYFGL WGFNSSLACIAMGGMFMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACTWPFCLATLLFLIMTTKNSNIYKMPLS KVTYPEENRIFYLQAKKRMVESPL*

Gene Symbol:	SLC14A1
Accession:	NM_001308278
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	142

Amino Acid Sequence (Calculated using NCBI transcript definition)
MALLLSQDRSLIASGLYGYNATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMALS MYLSATGHYNPFFPAKLVIPITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLRAILLSSPLMCLHAAIGSL LGIAAGLSLSAPFEDIYFGLWGFNSSLACIAMGGMFMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACTWPFCLA TLLFLIMTTKNSNIYKMPLSKVTYPEENRIFYLQAKKRMVESPL*

Gene Symbol:	SLC14A1
Accession:	NM_001308279
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	115

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMALSMYLSATGHYNPFFPAKLVIPITTAPNI SWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLRAILLSSPLMCLHAAIGSLLGIAAGLSLSAPFEDIYFGLWGFNSSL ACIAMGGMFMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACTWPFCLATLLFLIMTTKNSNIYKMPLSKVTYPEE NRIFYLQAKKRMVESPL*

Gene Symbol:	SLC14A1
Accession:	XM_047437758
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	282

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFVGPDTAPYEIKDQNILMVALQTLMAKEPEEEIAMEDSPTMVRVDSPTMVRGENQVSPCQGRRCFPKALGYVTGDMKEL ANQLKDKPVVLQFIDWILRGISQVVFVNNPVSGILILVGLLVQNPWWALTGWLGTVVSTLMALLLSQDRSLIASGLYGYN ATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMALSMYLSATGHYNPFFPAKLVIP ITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLRAILLSSPLMCLHAAIGSLLGIAAGLSLSAPFEDIYFGL WGFNSSLACIAMGGMFMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACTWPFCLATLLFLIMTTKNSNIYKMPLS KVTYPEENRIFYLQAKKRMVESPL*

Gene Symbol:	SLC14A1
Accession:	XM_047437759
Location:	EXON
Amino Acid Prediction:	G to R (nonsynonymous)
Amino Acid Position:	303

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNGRSLIGGAGDARHGPVWKDPFGTKAGDAARRGIARLSLALADGSQEQEPEEEIAMEDSPTMVRVDSPTMVRGENQVSP CQGRRCFPKALGYVTGDMKELANQLKDKPVVLQFIDWILRGISQVVFVNNPVSGILILVGLLVQNPWWALTGWLGTVVST LMALLLSQDRSLIASGLYGYNATLVGVLMAVFSDKGDYFWWLLLPVCAMSMTCPIFSSALNSMLSKWDLPVFTLPFNMAL SMYLSATGHYNPFFPAKLVIPITTAPNISWSDLSALELLKSIPVGVGQIYGCDNPWTGGIFLRAILLSSPLMCLHAAIGS LLGIAAGLSLSAPFEDIYFGLWGFNSSLACIAMGGMFMALTWQTHLLALGCGEEMEA*

Gene Symbol:	LOC105372093
Accession:	XR_935423
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV004131183	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	SLC14A1	CLINVAR
OMIM	613868	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message

Variant: RGD:156056721 - Homo sapiens