Product Details

SNP ID
rs117754102
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.4:127633138 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGGACTATGATTTTGAAGATCGGG[C/T]CAGCGACTCGGGTTCATATTCCTCA
Phenotype
MIM: 610621
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
INTU PubMed Links

Gene Details

Gene
INTU
Gene Name
inturned planar cell polarity protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_015693.3 234 Missense Mutation GCC,GTC A35V NP_056508.2
XM_011531844.2 234 Missense Mutation GCC,GTC A35V XP_011530146.1
XM_011531845.2 234 Missense Mutation GCC,GTC A35V XP_011530147.1
XM_011531846.1 234 Intron XP_011530148.1
XM_011531847.1 234 Intron XP_011530149.1
XM_011531848.2 234 Intron XP_011530150.1
XM_011531849.2 234 Missense Mutation GCC,GTC A35V XP_011530151.1
XM_011531850.2 234 Missense Mutation GCC,GTC A35V XP_011530152.1
XM_011531851.2 234 Missense Mutation GCC,GTC A35V XP_011530153.1
XM_017008025.1 234 Intron XP_016863514.1
XM_017008026.1 234 Missense Mutation GCC,GTC A35V XP_016863515.1

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