Product Details

SNP ID
rs2276691
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.2:74490396 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
TGAGCCCTGCCCTCAAAGCCCCTCT[A/G]CCTCTGCCACCTTCCCCAGTGTCTC
Phenotype
MIM: 607164
Polymorphism
A/G, Transition Substitution
Allele Nomenclature
Literature Links
CCDC142 PubMed Links

Gene Details

Gene
CCDC142
Gene Name
coiled-coil domain containing 142
There are no transcripts associated with this gene.

Gene
LBX2
Gene Name
ladybird homeobox 2
There are no transcripts associated with this gene.

Gene
TTC31
Gene Name
tetratricopeptide repeat domain 31
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_022492.4 346 Missense Mutation ACC,GCC T129A NP_071937.4
XM_005264492.1 346 Missense Mutation ACC,GCC T129A XP_005264549.1
XM_011533035.1 346 Missense Mutation ACC,GCC T129A XP_011531337.1
XM_011533036.1 346 Missense Mutation ACC,GCC T129A XP_011531338.1
XM_011533037.1 346 Missense Mutation ACC,GCC T129A XP_011531339.1
XM_011533040.1 346 UTR 5 XP_011531342.1
XM_017004706.1 346 Missense Mutation ACC,GCC T129A XP_016860195.1
XM_017004707.1 346 Missense Mutation ACC,GCC T129A XP_016860196.1
XM_017004708.1 346 UTR 5 XP_016860197.1
XM_017004709.1 346 UTR 5 XP_016860198.1

View Full Product Details