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SNP ID:
rs111744705
Gene
MGME1 SNORD17 SNX5
Gene Name
Set Membership:
-
Chromosome Location:
Chr.20: 17969609 - 17969609 on Build GRCh38
Polymorphism:
C/T, Transition substitution
Context Sequence [VIC/FAM]:

TTGCCTCAAGCTGTCTACTAATTCG[C/T]ATTTAGTATGTGTCGGTCCTTCGGG

Assay ID C_153511553_10
Size
Availability Made To Order
Catalog # 4351379
Price
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 615076 MIM: 605937

Literature Links:

 MGME1 PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
T (0.00)
(1.00)
Caucasian - Not Available CEPH (CEU) - Not Available
EAS
T (0.00)
(1.00)
African American - Not Available YRI (Yoruba) - Not Available
SAS
T (0.00)
(1.00)
Chinese - Not Available CHB (Han Chinese) - Not Available
AFR
T (0.00)
(1.00)
Japanese - Not Available JPT (Japanese) - Not Available
EUR
T (0.00)
(1.00)
AMR
T (0.00)
(1.00)
MGME1 - mitochondrial genome maintenance exonuclease 1
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001310338.1 468 Intron NP_001297267.1
NM_001310339.1 468 Intron NP_001297268.1
NM_052865.3 468 Intron NP_443097.1
XM_005260867.2 468 UTR 5 XP_005260924.1
XM_005260870.3 468 Intron XP_005260927.1
XM_006723663.3 468 Intron XP_006723726.1
XM_011529394.1 468 Intron XP_011527696.1
XM_011529395.1 468 Intron XP_011527697.1
XM_017028127.1 468 UTR 5 XP_016883616.1
XM_017028128.1 468 Intron XP_016883617.1
SNORD17 - small nucleolar RNA, C/D box 17
There are no transcripts associated with this gene.
SNX5 - sorting nexin 5
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001282454.1 468 Intron NP_001269383.1
NM_014426.3 468 Intron NP_055241.1
NM_152227.2 468 Intron NP_689413.1

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