RGD:8625874 Rat Genome Database

RGD:8625874 Rat Genome Database

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Variant: RGD:8625874 - Homo sapiens

RGD ID:

8625874

ClinVar ID:

CV80998

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	4	985,385
GRCh38	4	991,597

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
NC_000004.10:g.975385C>T NM_134425.2:c.107G>A NM_000203.4:c.299+3648C>T NG_033042.1:g.6840G>A More...		intron\|nonsense\|intron variant	not provided	Malignant melanoma, somatic

Variant Details

Variant Transcripts

Gene Symbol:	SLC26A1
Accession:	NM_134425
Location:	EXON
Amino Acid Prediction:	W to L (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDESPEPLQQGRGPVPVRRQRPAPRGLREMLKARLLCSCSCSVLCVRALVQDLLPATRWLRQYRPREYLAGDVMSGLVIG IILVPQAIAYSLLAGLQPIYSLYTSFFANLIYFLMGTSRHVSVGIFSLLCLMVGQVVDRELQLAGFDPSQDGLQPGANSS TLNGSAAMLDCGRDCYAIRVATALTLMTGLYQTSWGRNSFQQHPWQLTQRSDSQELLEEEERSC*

Gene Symbol:	SLC26A1
Accession:	NM_022042
Location:	EXON
Amino Acid Prediction:	W to L (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDESPEPLQQGRGPVPVRRQRPAPRGLREMLKARLLCSCSCSVLCVRALVQDLLPATRWLRQYRPREYLAGDVMSGLVIG IILVPQAIAYSLLAGLQPIYSLYTSFFANLIYFLMGTSRHVSVGIFSLLCLMVGQVVDRELQLAGFDPSQDGLQPGANSS TLNGSAAMLDCGRDCYAIRVATALTLMTGLYQVLMGVLRLGFVSAYLSQPLLDGFAMGASVTILTSQLKHLLGVRIPRHQ GPGMVVLTWLSLLRGAGQANVCDVVTSTVCLAVLLAAKELSDRYRHRLRVPLPTELLVIVVATLVSHFGQLHKRFGSSVA GDIPTGFMPPQVPEPRLMQRVALDAVALALVAAAFSISLAEMFARSHGYSVRANQELLAVGCCNVLPAFLHCFATSAALA KSLVKTATGCRTQLSSVVSATVVLLVLLALAPLFHDLQRSVLACVIVVSLRGALRKVWDLPRLWRMSPADALVWAGTAAT CMLVSTEAGLLAGVILSLLSLAGRTQRPRTALLARIGDTAFYEDATEFEGLVPEPGVRVFRFGGPLYYANKDFFLQSLYS LTGLDAGCMAARRKEGGSETGVGEGGPAQGEDLGPVSTRAALVPAAAGFHTVVIDCAPLLFLDAAGVSTLQDLRRDYGAL GISLLLACCSPPVRDILSRGGFLGEGPGDTAEEEQLFLSVHDAVQTARARHRELEATDAHL*

Gene Symbol:	SLC26A1
Accession:	NM_213613
Location:	EXON
Amino Acid Prediction:	W to L (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDESPEPLQQGRGPVPVRRQRPAPRGLREMLKARLLCSCSCSVLCVRALVQDLLPATRWLRQYRPREYLAGDVMSGLVIG IILVPQAIAYSLLAGLQPIYSLYTSFFANLIYFLMGTSRHVSVGIFSLLCLMVGQVVDRELQLAGFDPSQDGLQPGANSS TLNGSAAMLDCGRDCYAIRVATALTLMTGLYQVLMGVLRLGFVSAYLSQPLLDGFAMGASVTILTSQLKHLLGVRIPRHQ GPGMVVLTWLSLLRGAGQANVCDVVTSTVCLAVLLAAKELSDRYRHRLRVPLPTELLVIVVATLVSHFGQLHKRFGSSVA GDIPTGFMPPQVPEPRLMQRVALDAVALALVAAAFSISLAEMFARSHGYSVRANQELLAVGCCNVLPAFLHCFATSAALA KSLVKTATGCRTQLSSVVSATVVLLVLLALAPLFHDLQRSVLACVIVVSLRGALRKVWDLPRLWRMSPADALVWAGTAAT CMLVSTEAGLLAGVILSLLSLAGRTQRPRTALLARIGDTAFYEDATEFEGLVPEPGVRVFRFGGPLYYANKDFFLQSLYS LTGLDAGCMAARRKEGGSETGVGEGGPAQGEDLGPVSTRAALVPAAAGFHTVVIDCAPLLFLDAAGVSTLQDLRRDYGAL GISLLLACCSPPVRDILSRGGFLGEGPGDTAEEEQLFLSVHDAVQTARARHRELEATDAHL*

Gene Symbol:	SLC26A1
Accession:	XR_007096347
Location:	EXON;NON-CODING

Gene Symbol:	IDUA
Accession:	XM_047415650
Location:	INTRON

Gene Symbol:	IDUA
Accession:	XM_047415652
Location:	INTRON

Gene Symbol:	IDUA
Accession:	NM_001363576
Location:	INTRON

Gene Symbol:	IDUA
Accession:	NM_000203
Location:	INTRON

Gene Symbol:	IDUA
Accession:	XM_011513461
Location:	INTRON

Gene Symbol:	IDUA
Accession:	XM_047415651
Location:	INTRON

Gene Symbol:	IDUA
Accession:	XM_047415649
Location:	INTRON

Gene Symbol:	IDUA
Accession:	XM_047415648
Location:	INTRON

Gene Symbol:	IDUA
Accession:	NR_110313
Location:	INTRON;NON-CODING

Variant Samples