Product Details

SNP ID
rs151186324
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.3:121835362 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAGTTAGGGGAGAGTTTCGAGAAGC[A/G]GCCGCGCTGCGCCTTCCACACTGTG
Phenotype
MIM: 607659 MIM: 609237
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
EAF2 PubMed Links

Gene Details

Gene
EAF2
Gene Name
ELL associated factor 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001320041.1 183 UTR 5 NP_001306970.1
NM_018456.5 183 Missense Mutation CAG,CGG Q26R NP_060926.2
XM_005247618.3 183 UTR 5 XP_005247675.1
XM_017006861.1 183 Intron XP_016862350.1
XM_017006862.1 183 Intron XP_016862351.1
XM_017006863.1 183 Missense Mutation CAG,CGG Q26R XP_016862352.1
Gene
IQCB1
Gene Name
IQ motif containing B1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001023570.3 183 Intron NP_001018864.2
NM_001023571.3 183 Intron NP_001018865.2
NM_001319107.1 183 Intron NP_001306036.1
XM_005247911.3 183 Intron XP_005247968.1
XM_005247912.2 183 Intron XP_005247969.1
XM_011513335.2 183 Intron XP_011511637.1
XM_017007537.1 183 Intron XP_016863026.1
XM_017007538.1 183 Intron XP_016863027.1
XM_017007539.1 183 Intron XP_016863028.1

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