Product Details

SNP ID
rs192751297
Assay Type
Functionally tested
NCBI dbSNP Submissions
3
Location
Chr.1:15942074 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
GGCGGAAGACCAGCTCCCCAGCCTG[C/T]AGCACCTGCCCGGCAGGCCACGTGC
Phenotype
MIM: 613484 MIM: 604084
Polymorphism
C/T, Transition 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 2534 Silent Mutation CTA,CTG L687L NP_001229813.1
NM_001287603.1 2534 Silent Mutation CTA,CTG L776L NP_001274532.1
NM_001287604.1 2534 Silent Mutation CTA,CTG L693L NP_001274533.1
NM_001324137.1 2534 Silent Mutation CTA,CTG L693L NP_001311066.1
NM_001324138.1 2534 Silent Mutation CTA,CTG L706L NP_001311067.1
NM_003443.2 2534 Silent Mutation CTA,CTG L769L NP_003434.2
XM_005245986.1 2534 Silent Mutation CTA,CTG L713L XP_005246043.1
XM_005245987.1 2534 Silent Mutation CTA,CTG L700L XP_005246044.1
XM_011542085.2 2534 Silent Mutation CTA,CTG L700L XP_011540387.1
XM_011542086.1 2534 Silent Mutation CTA,CTG L694L XP_011540388.1
XM_011542087.2 2534 Silent Mutation CTA,CTG L694L XP_011540389.1
XM_011542088.1 2534 Silent Mutation CTA,CTG L687L XP_011540390.1
XM_017002242.1 2534 Silent Mutation CTA,CTG L694L XP_016857731.1

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