Product Details

SNP ID
rs202055956
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:93242464 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CATGCAGAAAGTGAAGGTCTGTTAG[A/G]AGTCAGCCCAAAAGTCAAGTCAGTT
Phenotype
MIM: 610386
Polymorphism
A/G, 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 3352 Missense Mutation CCT,TCT P1070S NP_001002860.2
NM_001289133.1 3352 Missense Mutation CCT,TCT P719S NP_001276062.1
NM_018167.4 3352 Intron NP_060637.1
XM_011536939.2 3352 Missense Mutation CCT,TCT P1070S XP_011535241.1
XM_017021438.1 3352 Missense Mutation CCT,TCT P595S XP_016876927.1

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