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SNP ID:
rs9942557
Gene
IMMP2L LRRN3
Gene Name
Set Membership:
> HapMap
Chromosome Location:
Chr.7: 111122843 - 111122843 on Build GRCh38
Polymorphism:
A/G, Transition substitution
Context Sequence [VIC/FAM]:

ATCACTACACTAGTACAAGCTGTAG[A/G]TAAAAAAGTGGATTGTCCACGGTTA

Assay ID C__25640508_20
Size
Availability Made To Order
Catalog # 4351379
Price
Your Price
Online offer:
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Assay Details



Species:

 Human

dbSNP Submissions:

 NA

Phenotype:

 MIM: 605977

Literature Links:

 IMMP2L PubMed Links

Allele Nomenclature:

Minor Allele Frequency:
1000Genome Applied Biosystems® HapMap
Global
G (0.03)
(0.97)
Caucasian - Not Available CEPH (CEU)
G (0.04)
(0.96)
EAS
G (0.00)
(1.00)
African American - Not Available YRI (Yoruba)
G (0.04)
(0.96)
SAS
G (0.01)
(0.99)
Chinese - Not Available CHB (Han Chinese) - Not Available
AFR
G (0.04)
(0.96)
Japanese - Not Available JPT (Japanese)
G (0.06)
(0.94)
EUR
G (0.06)
(0.94)
AMR
G (0.03)
(0.97)
IMMP2L - inner mitochondrial membrane peptidase subunit 2
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001244606.1 928 Intron NP_001231535.1
NM_032549.3 928 Intron NP_115938.1
XM_005250630.3 928 Intron XP_005250687.1
XM_011516605.2 928 Intron XP_011514907.1
XM_011516608.2 928 Intron XP_011514910.1
XM_011516609.2 928 Intron XP_011514911.1
XM_011516611.2 928 Intron XP_011514913.1
XM_011516613.2 928 Intron XP_011514915.1
XM_017012699.1 928 Intron XP_016868188.1
XM_017012700.1 928 Intron XP_016868189.1
XM_017012701.1 928 Intron XP_016868190.1
XM_017012702.1 928 Intron XP_016868191.1
XM_017012703.1 928 Intron XP_016868192.1
XM_017012704.1 928 Intron XP_016868193.1
XM_017012705.1 928 Intron XP_016868194.1
LRRN3 - leucine rich repeat neuronal 3
Transcript Accession SNP Location SNP Type Observed Codons Observed Amino Acid Protein ID
NM_001099658.1 928 Missense Mutation GAT,GGT D,G 24 NP_001093128.1
NM_001099660.1 928 Missense Mutation GAT,GGT D,G 24 NP_001093130.1
NM_018334.4 928 Missense Mutation GAT,GGT D,G 24 NP_060804.3

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