Product Details

SNP ID
rs143259183
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:197728553 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GAGCTGGAATAGAGCTGCCCAATTG[C/T]CTTAATAATGAATGCTCCACACTGT
Phenotype
MIM: 606165
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BOLL PubMed Links

Gene Details

Gene
BOLL
Gene Name
boule homolog, RNA binding protein
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001284358.1 1527 UTR 3 NP_001271287.1
NM_001284361.1 1527 Missense Mutation ACA,GCA T312A NP_001271290.1
NM_001284362.1 1527 UTR 3 NP_001271291.1
NM_033030.5 1527 UTR 3 NP_149019.1
NM_197970.2 1527 UTR 3 NP_932074.1
XM_006712715.3 1527 UTR 3 XP_006712778.1
XM_011511692.2 1527 UTR 3 XP_011509994.1
XM_011511693.2 1527 UTR 3 XP_011509995.1
XM_011511694.2 1527 UTR 3 XP_011509996.1
XM_017004773.1 1527 Intron XP_016860262.1

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