Product Details

SNP ID
rs148709071
Assay Type
Functionally Tested
NCBI dbSNP Submissions
2
Location
Chr.1:52927413 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGTGCAGCCATGTCCTCTTCCCCGT[C/G]GGAGCCTGCGACCCTGCGCCGGGTG
Phenotype
MIM: 184755
Polymorphism
C/G, Transversion Substitution
Allele Nomenclature
Literature Links
ECHDC2 PubMed Links

Gene Details

Gene
ECHDC2
Gene Name
enoyl-CoA hydratase domain containing 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001198961.1 185 Intron NP_001185890.1
NM_001198962.1 185 Intron NP_001185891.1
NM_001319958.1 185 Intron NP_001306887.1
NM_018281.3 185 Intron NP_060751.2
XM_011541709.2 185 Intron XP_011540011.1
XM_011541710.2 185 Intron XP_011540012.1
XM_011541711.2 185 Intron XP_011540013.1
XM_011541712.2 185 Intron XP_011540014.1
XM_011541713.2 185 Intron XP_011540015.1
XM_011541715.2 185 Intron XP_011540017.1
XM_011541719.2 185 Intron XP_011540021.1
XM_011541720.2 185 Intron XP_011540022.1
XM_011541721.2 185 Intron XP_011540023.1
XM_011541722.2 185 Intron XP_011540024.1
XM_011541723.2 185 Intron XP_011540025.1
XM_011541724.2 185 Intron XP_011540026.1
XM_011541725.2 185 Intron XP_011540027.1
XM_011541726.2 185 Intron XP_011540028.1
XM_011541727.2 185 Intron XP_011540029.1
XM_017001638.1 185 Intron XP_016857127.1
XM_017001639.1 185 Intron XP_016857128.1
XM_017001640.1 185 Intron XP_016857129.1
XM_017001641.1 185 Intron XP_016857130.1
XM_017001642.1 185 Intron XP_016857131.1
Gene
MIR1273F
Gene Name
microRNA 1273f
There are no transcripts associated with this gene.

Gene
MIR5095
Gene Name
microRNA 5095
There are no transcripts associated with this gene.

Gene
SCP2
Gene Name
sterol carrier protein 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001007098.2 185 Missense Mutation TCG,TGG S6W NP_001007099.1
NM_001007099.2 185 Intron NP_001007100.1
NM_001007100.2 185 Intron NP_001007101.1
NM_001007250.2 185 Intron NP_001007251.1
NM_001193599.1 185 Missense Mutation TCG,TGG S6W NP_001180528.1
NM_001193600.1 185 Missense Mutation TCG,TGG S6W NP_001180529.1
NM_001193617.1 185 UTR 5 NP_001180546.1
NM_002979.4 185 Missense Mutation TCG,TGG S6W NP_002970.2
XM_005271103.4 185 Missense Mutation TCG,TGG S6W XP_005271160.1
XM_011541935.2 185 Missense Mutation TCG,TGG S6W XP_011540237.1
XM_017002045.1 185 Missense Mutation TCG,TGG S6W XP_016857534.1
XM_017002046.1 185 Intron XP_016857535.1

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