rs1968952487 Rat Genome Database

rs1968952487 Rat Genome Database

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Variant: rs1968952487 - Homo sapiens

RGD ID:

40890005

RS ID:

rs1968952487

ClinVar ID:

CV975536

Genic Status:

GENIC

Type:

insertion (SO:0000667)

Associated Genes:

SMG9

Reference Nucleotide:

-

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	19	44,249,015
GRCh38	19	43,744,863

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_019108.4:c.610dup NG_051200.1:g.15174dup NC_000019.10:g.43744863dup NC_000019.9:g.44249015dup NP_061981.2:p.Val204fs More...	10/23/2020	frameshift variant	likely pathogenic	none provided

Gene Symbol:	SMG9
Accession:	XM_047439099
Location:	5UTRS;INTRON

Gene Symbol:	SMG9
Accession:	NM_019108
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKTPIILSKPPAERSKQPP PPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPAAPAPPKGEKEGQRPTQPVYQIQNRGMGTAAPA AMDPVVGQAKLLPPERMKHSIKLVDDQMNWCDSAIEYLLDQTDGLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRA QSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIV VQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHL RYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSM ARPQLSHTILTEKNWFHYAARIWDGVRKSSALAEYSRLLA*

Gene Symbol:	SMG9
Accession:	XM_005259057
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKTPIILSKPPAERSKQPP PPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPAAPAPPKGEKEGQRPTQPVYQIQNRGMGTAAPA AMDPVVGQAKLLPPERMKHSIKLVDDQMNWCDSAIEYLLDQTDGLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRA QSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIV VQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHL RYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSM ARPQLSHTILTEKNCRGLRLMLPAGHCGHQLDILLQGGLLL*

Gene Symbol:	SMG9
Accession:	XM_011527113
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKTPIILSKPPAERSKQPP PPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPAAPAPPKGEKEGQRPTQPVYQIQNRGMGTAAPA AMDPVVGQAKLLPPERMKHSIKLVDDQMNWCDSAIEYLLDQTDGLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRA QSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIV VQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHL RYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSM ARPQLSHTILTEKNCRGLRLMLPAGHCGHQLDILLQGGLLL*

Gene Symbol:	SMG9
Accession:	XM_011527115
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKTPIILSKPPAERSKQPP PPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPAAPAPPKGEKEGQRPTQPVYQIQNRGMGTAAPA AMDPVVGQAKLLPPERMKHSIKLVDDQMNWCDSAIEYLLDQTDGLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRA QSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIV VQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHL RYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSM ARPQLSHTILTEKNCRGLRLMLPAGHCGHQLDILLQGGLLL*

Gene Symbol:	SMG9
Accession:	XM_011527116
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKTPIILSKPPAERSKQPP PPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPAAPAPPKGEKEGQRPTQPVYQIQNRGMGTAAPA AMDPVVGQAKLLPPERMKHSIKLVDDQMNWCDSAIEYLLDQTDGLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRA QSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIV VQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHL RYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSM ARPQLSHTILTEKNCRGLRLMLPAGHCGHQLDILLQGGLLL*

Gene Symbol:	SMG9
Accession:	XM_011527114
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKTPIILSKPPAERSKQPP PPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPAAPAPPKGEKEGQRPTQPVYQIQNRGMGTAAPA AMDPVVGQAKLLPPERMKHSIKLVDDQMNWCDSAIEYLLDQTDGLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRA QSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIV VQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHL RYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSM ARPQLSHTILTEKNCRGLRLMLPAGHCGHQLDILLQGGLLL*

Gene Symbol:	SMG9
Accession:	XM_047439098
Location:	EXON
Amino Acid Prediction:	V to G (nonsynonymous)
Amino Acid Position:	204

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKTPIILSKPPAERSKQPP PPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPAAPAPPKGEKEGQRPTQPVYQIQNRGMGTAAPA AMDPVVGQAKLLPPERMKHSIKLVDDQMNWCDSAIEYLLDQTDGLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRA QSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIV VQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHL RYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSM ARPQLSHTILTEKNCRGLRLMLPAGHCGHQLDILLQGGLLL*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV001268562	CLINVAR
dbSNP (RS)	rs1968952487	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	SMG9	CLINVAR
OMIM	613176	CLINVAR