RGD:8625714 Rat Genome Database

RGD:8625714 Rat Genome Database

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Variant: RGD:8625714 - Homo sapiens

RGD ID:

8625714

ClinVar ID:

CV80838

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	4	139,103,513
GRCh38	4	138,182,359

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_014331.3:c.1054C>T NC_000004.12:g.138182359G>A NC_000004.11:g.139103513G>A NP_055146.1:p.Pro352Ser NC_000004.10:g.139322963G>A More...		missense\|missense variant	not provided	Malignant melanoma, somatic

Variant Details

Variant Transcripts

Gene Symbol:	SLC7A11
Accession:	XM_011531802
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	352

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVRKPVVSTISKGGYLQGNVNGRLPSLGNKEPPGQEKVQLKRKVTLLRGVSIIIGTIIGAGIFISPKGVLQNTGSVGMSL TIWTVCGVLSLFGALSYAELGTTIKKSGGHYTYILEVFGPLPAFVRVWVELLIIRPAATAVISLAFGRYILEPFFIQCEI PELAIKLITAVGITVVMVLNSMSVSWSARIQIFLTFCKLTAILIIIVPGVMQLIKGQTQNFKDAFSGRDSSITRLPLAFY YGMYAYAGWFYLNFVTEEVENPEKTIPLAICISMAIVTIGYVLTNVAYFTTINAEELLLSNAVAVTFSERLLGNFSLAVP IFVALSCFGSMNGGVFAVSRLFYVASREGHLSEILSMIHVRKHTPLPAVIVLHPLTMIMLFSGDLDSLLNFLSFARWLFI GLAVAGLIYLRYKCPDMHRPFKVPLFIPALFSFTCLFMVALSLYSDPFSTGIGFVITLTGVPAYYLFIIWDKKPRWFRIM SVTENTKCRLINTPLFKERVPRVDYP*

Gene Symbol:	SLC7A11
Accession:	NM_014331
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	352

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVRKPVVSTISKGGYLQGNVNGRLPSLGNKEPPGQEKVQLKRKVTLLRGVSIIIGTIIGAGIFISPKGVLQNTGSVGMSL TIWTVCGVLSLFGALSYAELGTTIKKSGGHYTYILEVFGPLPAFVRVWVELLIIRPAATAVISLAFGRYILEPFFIQCEI PELAIKLITAVGITVVMVLNSMSVSWSARIQIFLTFCKLTAILIIIVPGVMQLIKGQTQNFKDAFSGRDSSITRLPLAFY YGMYAYAGWFYLNFVTEEVENPEKTIPLAICISMAIVTIGYVLTNVAYFTTINAEELLLSNAVAVTFSERLLGNFSLAVP IFVALSCFGSMNGGVFAVSRLFYVASREGHLSEILSMIHVRKHTPLPAVIVLHPLTMIMLFSGDLDSLLNFLSFARWLFI GLAVAGLIYLRYKCPDMHRPFKVPLFIPALFSFTCLFMVALSLYSDPFSTGIGFVITLTGVPAYYLFIIWDKKPRWFRIM SEKITRTLQIILEVVPEEDKL*

Gene Symbol:	SLC7A11
Accession:	XM_047449957
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	366

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGSPLTFYSTAQDRMIKPVVSTISKGGYLQGNVNGRLPSLGNKEPPGQEKVQLKRKVTLLRGVSIIIGTIIGAGIFISP KGVLQNTGSVGMSLTIWTVCGVLSLFGALSYAELGTTIKKSGGHYTYILEVFGPLPAFVRVWVELLIIRPAATAVISLAF GRYILEPFFIQCEIPELAIKLITAVGITVVMVLNSMSVSWSARIQIFLTFCKLTAILIIIVPGVMQLIKGQTQNFKDAFS GRDSSITRLPLAFYYGMYAYAGWFYLNFVTEEVENPEKTIPLAICISMAIVTIGYVLTNVAYFTTINAEELLLSNAVAVT FSERLLGNFSLAVPIFVALSCFGSMNGGVFAVSRLFYVASREGHLSEILSMIHVRKHTPLPAVIVLHPLTMIMLFSGDLD SLLNFLSFARWLFIGLAVAGLIYLRYKCPDMHRPFKVPLFIPALFSFTCLFMVALSLYSDPFSTGIGFVITLTGVPAYYL FIIWDKKPRWFRIMSEKITRTLQIILEVVPEEDKL*

Gene Symbol:	SLC7A11
Accession:	XM_047449958
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	366

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGSPLTFYSTAQDRMIKPVVSTISKGGYLQGNVNGRLPSLGNKEPPGQEKVQLKRKVTLLRGVSIIIGTIIGAGIFISP KGVLQNTGSVGMSLTIWTVCGVLSLFGALSYAELGTTIKKSGGHYTYILEVFGPLPAFVRVWVELLIIRPAATAVISLAF GRYILEPFFIQCEIPELAIKLITAVGITVVMVLNSMSVSWSARIQIFLTFCKLTAILIIIVPGVMQLIKGQTQNFKDAFS GRDSSITRLPLAFYYGMYAYAGWFYLNFVTEEVENPEKTIPLAICISMAIVTIGYVLTNVAYFTTINAEELLLSNAVAVT FSERLLGNFSLAVPIFVALSCFGSMNGGVFAVSRLFYVASREGHLSEILSMIHVRKHTPLPAVIVLHPLTMIMLFSGDLD SLLNFLSFARWLFIGLAVAGLIYLRYKCPDMHRPFKVPLFIPALFSFTCLFMVALSLYSDPFSTGIGFVITLTGVPAYYL FIIWDKKPRWFRIMSV*

Gene Symbol:	SLC7A11
Accession:	XM_047449956
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	366

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPGSPLTFYSTAQDRMIKPVVSTISKGGYLQGNVNGRLPSLGNKEPPGQEKVQLKRKVTLLRGVSIIIGTIIGAGIFISP KGVLQNTGSVGMSLTIWTVCGVLSLFGALSYAELGTTIKKSGGHYTYILEVFGPLPAFVRVWVELLIIRPAATAVISLAF GRYILEPFFIQCEIPELAIKLITAVGITVVMVLNSMSVSWSARIQIFLTFCKLTAILIIIVPGVMQLIKGQTQNFKDAFS GRDSSITRLPLAFYYGMYAYAGWFYLNFVTEEVENPEKTIPLAICISMAIVTIGYVLTNVAYFTTINAEELLLSNAVAVT FSERLLGNFSLAVPIFVALSCFGSMNGGVFAVSRLFYVASREGHLSEILSMIHVRKHTPLPAVIVLHPLTMIMLFSGDLD SLLNFLSFARWLFIGLAVAGLIYLRYKCPDMHRPFKVPLFIPALFSFTCLFMVALSLYSDPFSTGIGFVITLTGVPAYYL FIIWDKKPRWFRIMSVTENTKCRLINTPLFKERVPRVDYP*

Gene Symbol:	SLC7A11
Accession:	XM_047449959
Location:	INTRON

Gene Symbol:	SLC7A11
Accession:	XM_047449960
Location:	INTRON

Variant Samples