Product Details

SNP ID
rs3138359
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.3:129432968 on Build GRCh38
Set Membership
HapMap
Context Sequence [VIC/FAM]
GTGGTTTGGGGAAAGTGGACTTTTT[A/T]AAATGCCTTGGGTGCTTGAGCTGAA
Phenotype
MIM: 606045 MIM: 603574
Polymorphism
A/T, Transversion Substitution
Allele Nomenclature
Literature Links
EFCAB12 PubMed Links

Gene Details

Gene
EFCAB12
Gene Name
EF-hand calcium binding domain 12
There are no transcripts associated with this gene.

Gene
IFT122
Gene Name
intraflagellar transport 122
There are no transcripts associated with this gene.

Gene
MBD4
Gene Name
methyl-CpG binding domain 4, DNA glycosylase
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001276270.1 Intron NP_001263199.1
NM_001276271.1 Intron NP_001263200.1
NM_001276272.1 Intron NP_001263201.1
NM_001276273.1 Intron NP_001263202.1
NM_003925.2 Intron NP_003916.1
XM_011513268.2 Intron XP_011511570.1

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