Product Details

SNP ID
rs112450221
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:32368446 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCCTCTGACCCACCAGGCCCACTCA[C/G]CTCCCCGGAGGCATCCACTTTGGAA
Phenotype
MIM: 607660
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
BSDC1 PubMed Links

Gene Details

Gene
BSDC1
Gene Name
BSD domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001143888.2 1288 Intron NP_001137360.1
NM_001143889.2 1288 Intron NP_001137361.1
NM_001143890.2 1288 Intron NP_001137362.1
NM_001300958.1 1288 Missense Mutation CTG,GTG L438V NP_001287887.1
NM_018045.7 1288 Intron NP_060515.3
XM_005270986.4 1288 Missense Mutation CTG,GTG L421V XP_005271043.1
XM_011541677.2 1288 Missense Mutation CTG,GTG L426V XP_011539979.1
Gene
FAM229A
Gene Name
family with sequence similarity 229 member A
There are no transcripts associated with this gene.

Gene
TSSK3
Gene Name
testis specific serine kinase 3
There are no transcripts associated with this gene.

View Full Product Details