Product Details

SNP ID
rs185722120
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.14:93242300 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AGAGGGCAGACTTTTTGTAGAGGAA[A/G]TCCGGCTTGCTTGGTGACCTCCTTC
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 3516 Silent Mutation GAC,GAT D1124D NP_001002860.2
NM_001289133.1 3516 Silent Mutation GAC,GAT D773D NP_001276062.1
NM_018167.4 3516 Intron NP_060637.1
XM_011536939.2 3516 Silent Mutation GAC,GAT D1124D XP_011535241.1
XM_017021438.1 3516 Silent Mutation GAC,GAT D649D XP_016876927.1

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