Product Details

SNP ID
rs200084349
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.6:136261440 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
AAAAGTACCACGACCTCTTCCTCTT[C/T]TGGCCCAATAATCCACACCATCATC
Phenotype
MIM: 612588
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
BCLAF1 PubMed Links

Gene Details

Gene
BCLAF1
Gene Name
BCL2 associated transcription factor 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001077440.1 2998 Missense Mutation NP_001070908.1
NM_001077441.1 2998 Missense Mutation NP_001070909.1
NM_001301038.1 2998 Missense Mutation NP_001287967.1
NM_014739.2 2998 Missense Mutation NP_055554.1
XM_005267237.3 2998 Missense Mutation XP_005267294.1
XM_017011529.1 2998 Missense Mutation XP_016867018.1
XM_017011530.1 2998 Missense Mutation XP_016867019.1
XM_017011531.1 2998 Missense Mutation XP_016867020.1
XM_017011532.1 2998 Missense Mutation XP_016867021.1
Gene
MTFR2
Gene Name
mitochondrial fission regulator 2
There are no transcripts associated with this gene.

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