RGD:8627536 Rat Genome Database

RGD:8627536 Rat Genome Database

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Variant: RGD:8627536 - Homo sapiens

RGD ID:

8627536

ClinVar ID:

CV82680

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	14	52,735,100
GRCh38	14	52,268,382

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_000953.2:c.568G>A NG_012118.1:g.5670G>A NC_000014.9:g.52268382G>A NC_000014.8:g.52735100G>A More...		missense\|missense variant	not provided	Malignant melanoma, somatic

Variant Details

Variant Transcripts

Gene Symbol:	PTGDR
Accession:	NM_000953
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	190

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSPFYRCQNTTSVEKGNSAVMGGVLFSTGLLGNLLALGLLARSGLGWCSRRPLRPLPSVFYMLVCGLTVTDLLGKCLLS PVVLAAYAQNRSLRVLAPALDNSLCQAFAFFMSFFGLSSTLQLLAMALECWLSLGHPFFYRRHITLRLGALVAPVVSAFS LAFCALPFMGFGKFVQYCPGTWCFIQMVHKEGSLSVLGYSVLYSSLMALLVLATVLCNLGAMRNLYAMHRRLQRHPRSCT RDCAEPRADGREASPQPLEELDHLLLLALMTVLFTMCSLPVIYRAYYGAFKDVKEKNRTSEEAEDLRALRFLSVISIVDP WIFIIFRSPVFRIFFHKIFIRPLRYRSRCSNSTNMESSL*

Gene Symbol:	PTGDR
Accession:	NM_001281469
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	190

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSPFYRCQNTTSVEKGNSAVMGGVLFSTGLLGNLLALGLLARSGLGWCSRRPLRPLPSVFYMLVCGLTVTDLLGKCLLS PVVLAAYAQNRSLRVLAPALDNSLCQAFAFFMSFFGLSSTLQLLAMALECWLSLGHPFFYRRHITLRLGALVAPVVSAFS LAFCALPFMGFGKFVQYCPGTWCFIQMVHKEGSLSVLGYSVLYSSLMALLVLATVLCNLGAMRNLYAMHRRLQRHPRSCT RDCAEPRADGREASPQPLEELDHLLLLALMTVLFTMCSLPVIAFVPGVPAKTPGSR*

Gene Symbol:	PTGDR
Accession:	XM_005267891
Location:	EXON
Amino Acid Prediction:	E to K (nonsynonymous)
Amino Acid Position:	190

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKSPFYRCQNTTSVEKGNSAVMGGVLFSTGLLGNLLALGLLARSGLGWCSRRPLRPLPSVFYMLVCGLTVTDLLGKCLLS PVVLAAYAQNRSLRVLAPALDNSLCQAFAFFMSFFGLSSTLQLLAMALECWLSLGHPFFYRRHITLRLGALVAPVVSAFS LAFCALPFMGFGKFVQYCPGTWCFIQMVHKEGSLSVLGYSVLYSSLMALLVLATVLCNLGAMRNLYAMHRRLQRHPRSCT RDCAEPRADGREASPQPLEELDHLLLLALMTVLFTMCSLPVIYRAYYGAFKDVKEKNRTSEEAEDLRALRFLSVISIVDP WIFIIFRSPVFRIFFHKIFIRPLRYRSRCSNSTNMESSL*

Variant Samples