Product Details

SNP ID
rs202159154
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:93242502 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGTCAAGTCAGTTTCTACTGCAGTT[C/T]GTCCCCTGACATGGGCTGGACCGGT
Phenotype
MIM: 610386
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BTBD7 PubMed Links

Gene Details

Gene
BTBD7
Gene Name
BTB domain containing 7
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001002860.3 3314 Missense Mutation CAA,CGA Q1057R NP_001002860.2
NM_001289133.1 3314 Missense Mutation CAA,CGA Q706R NP_001276062.1
NM_018167.4 3314 Intron NP_060637.1
XM_011536939.2 3314 Missense Mutation CAA,CGA Q1057R XP_011535241.1
XM_017021438.1 3314 Missense Mutation CAA,CGA Q582R XP_016876927.1

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