Product Details

SNP ID
rs201274849
Assay Type
Functionally tested
NCBI dbSNP Submissions
2
Location
Chr.1:15942430 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GCTCCCACCGGCACCACTGCGGGCA[C/G]AGTCGCAGGGCCTAAGGTGAAGGCA
Phenotype
MIM: 613484 MIM: 604084
Polymorphism
C/G, Transversion substitution
Allele Nomenclature
Literature Links
SPEN PubMed Links

Gene Details

Gene
SPEN
Gene Name
spen family transcriptional repressor
There are no transcripts associated with this gene.

Gene
ZBTB17
Gene Name
zinc finger and BTB domain containing 17
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001242884.1 2256 Intron NP_001229813.1
NM_001287603.1 2256 Missense Mutation CTG,GTG L684V NP_001274532.1
NM_001287604.1 2256 Intron NP_001274533.1
NM_001324137.1 2256 Intron NP_001311066.1
NM_001324138.1 2256 Intron NP_001311067.1
NM_003443.2 2256 Intron NP_003434.2
XM_005245986.1 2256 Missense Mutation CTG,GTG L621V XP_005246043.1
XM_005245987.1 2256 Missense Mutation CTG,GTG L608V XP_005246044.1
XM_011542085.2 2256 Missense Mutation CTG,GTG L608V XP_011540387.1
XM_011542086.1 2256 Missense Mutation CTG,GTG L602V XP_011540388.1
XM_011542087.2 2256 Missense Mutation CTG,GTG L602V XP_011540389.1
XM_011542088.1 2256 Intron XP_011540390.1
XM_017002242.1 2256 Missense Mutation CTG,GTG L602V XP_016857731.1

View Full Product Details