rs1057518878 Rat Genome Database

rs1057518878 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs1057518878 - Homo sapiens

RGD ID:

12741784

RS ID:

rs1057518878

ClinVar ID:

CV361002

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MAF

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	16	79,633,612
GRCh38	16	79,599,715

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_016440.1:g.6011C>G NC_000016.10:g.79599715G>C NC_000016.9:g.79633612G>C NP_005351.2:p.Pro63Arg More...	07/22/2015	missense variant	likely pathogenic	Congenital cataract; Congenital cataracts

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV361002	Human	cataract		IAGP		8554872	ClinVar Annotator: match by term: Congenital cataract	ClinVar	PMID:25741868

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV361002	Human	Developmental cataract		IAGP		8554872	ClinVar Annotator: match by term: Congenital cataract	ClinVar	PMID:25741868

Gene Symbol:	MAF
Accession:	NM_005360
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	63

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTRCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFITEPTRKLEPSVGYATFWKPQHRVLTSV FTK*

Gene Symbol:	MAF
Accession:	XM_017023233
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	63

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTRCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:	MAF
Accession:	XM_024450279
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	63

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTRCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:	MAF
Accession:	XM_017023234
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	63

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTRCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:	MAF
Accession:	NM_001031804
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	63

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTRCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFM*

Gene Symbol:	MAF
Accession:	XM_017023235
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	63

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASELAMSNSDLPTSPLAMEYVNDFDLMKFEVKKEPVETDRIISQCGRLIAGGSLSSTPMSTRCSSVPPSPSFSAPSPGS GSEQKAHLEDYYWMTGYPQQLNPEALGFSPEDAVEALISNSHQLQGGFDGYARGAQQLAAAAGAGAGASLGGSGEEMGPA AAVVSAVIAAAAAQSGAGPHYHHHHHHAAGHHHHPTAGAPGAAGSAAASAGGAGGAGGGGPASAGGGGGGGGGGGGGGAA GAGGALHPHHAAGGLHFDDRFSDEQLVTMSVRELNRQLRGVSKEEVIRLKQKRRTLKNRGYAQSCRFKRVQQRHVLESEK NQLLQQVDHLKQEISRLVRERDAYKEKYEKLVSSGFRENGSSSDNPSSPEFFMYPRESSTSVM*

Gene Symbol:	MAF
Accession:	XR_002957803
Location:	EXON;NON-CODING

Gene Symbol:	MAF
Accession:	XR_002957804
Location:	EXON;NON-CODING

Gene Symbol:	MAF
Accession:	XR_001751902
Location:	EXON;NON-CODING

Gene Symbol:	MAF
Accession:	XR_002957802
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV000415117	CLINVAR
dbSNP (RS)	rs1057518878	CLINVAR
MedGen	C0009691	CLINVAR
NCBI Gene	MAF	CLINVAR
OMIM	177075	CLINVAR
SNOMED CT	79410001	CLINVAR