RGD:11646613 Rat Genome Database

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Variant: RGD:11646613 -  Homo sapiens

RGD ID: 11646613
RS ID: rs886048698
ClinVar ID: CV322156
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A22  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 794,869
GRCh38 11 794,869
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023407.1:g.8401C>T
NC_000011.10:g.794869G>A
NC_000011.9:g.794869G>A
NP_001177990.1:p.Ala18Val
More... 		06/14/2016 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC25A22
Accession:XM_011520369
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIVGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_024448689
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIVGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:NM_001191060
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIVGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_047427600
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIVGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:NM_024698
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIVGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_011520371
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIVGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_047427601
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIVGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_047427599
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIVGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:NM_001191061
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIVGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_011520370
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIVGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_024448687
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIVGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*

Gene Symbol:SLC25A22
Accession:XM_024448688
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 18
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MADKQISLPAKLINGGIVGLIGVTCVFPIDLAKTRLQNQQNGQRVYTSMSDCLIKTVRSEGYFGMYRGAAVNLTLVTPEK
AIKLAANDFFRHQLSKDGQKLTLLKEMLAGCGAGTCQVIVTTPMEMLKIQLQDAGRIAAQRKILAAQGQLSAQGGAQPSV
EAPAAPRPTATQLTRDLLRSRGIAGLYKGLGATLLRDVPFSVVYFPLFANLNQLGRPASEEKSPFYVSFLAGCVAGSAAA
VAVNPCDVVKTRLQSLQRGVNEDTYSGILDCARKILRHEGPSAFLKGAYCRALVIAPLFGIAQVVYFLGIAESLLGLLQD
PQA*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000272002 CLINVAR
dbSNP (RS) rs886048698 CLINVAR
MedGen C0270855 CLINVAR
NCBI Gene SLC25A22 CLINVAR
OMIM 609302 CLINVAR
SNOMED CT 44423001 CLINVAR