Product Details

SNP ID
rs147478517
Assay Type
Functionally tested
NCBI dbSNP Submissions
15
Location
Chr.1:225487133 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGTCATGCACATACAGGTTACAC[G/T]TTATGGTTACATGAAATTGCATGCA
Phenotype
MIM: 609061
Polymorphism
G/T, Transversion substitution
Allele Nomenclature
Literature Links
ENAH PubMed Links

Gene Details

Gene
ENAH
Gene Name
enabled homolog (Drosophila)
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001008493.1 12637 UTR 3 NP_001008493.1
NM_018212.4 12637 UTR 3 NP_060682.2
XM_005273187.2 12637 UTR 3 XP_005273244.1
XM_011544229.2 12637 Intron XP_011542531.2
XM_017001746.1 12637 UTR 3 XP_016857235.1
XM_017001747.1 12637 Intron XP_016857236.1
XM_017001748.1 12637 Intron XP_016857237.1
XM_017001749.1 12637 Intron XP_016857238.1
XM_017001750.1 12637 Intron XP_016857239.1
XM_017001751.1 12637 UTR 3 XP_016857240.1
XM_017001752.1 12637 Intron XP_016857241.1
XM_017001753.1 12637 UTR 3 XP_016857242.1
XM_017001754.1 12637 UTR 3 XP_016857243.1
XM_017001755.1 12637 UTR 3 XP_016857244.1
XM_017001756.1 12637 UTR 3 XP_016857245.1
XM_017001757.1 12637 UTR 3 XP_016857246.1

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