Product Details

SNP ID
rs148543005
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.21:46161661 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGTAGCGCTGCGTCAGCTCGCG[C/T]AGCTTCCTCTCGTCCACGGAGCCGT
Phenotype
MIM: 606806 MIM: 612412
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
FTCD PubMed Links

Gene Details

Gene
FTCD
Gene Name
formimidoyltransferase cyclodeaminase
There are no transcripts associated with this gene.

Gene
SPATC1L
Gene Name
spermatogenesis and centriole associated 1-like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001142854.1 480 Silent Mutation CTA,CTG L247L NP_001136326.1
NM_032261.4 480 Silent Mutation CTA,CTG L93L NP_115637.3
XM_005261188.4 480 Silent Mutation CTA,CTG L247L XP_005261245.1
XM_011529756.2 480 Silent Mutation CTA,CTG L133L XP_011528058.1
XM_017028480.1 480 Silent Mutation CTA,CTG L247L XP_016883969.1

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