Product Details

SNP ID
rs145843473
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:46162020 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CGGCGGTCCAGCTGGAAGGCGATCT[C/T]GCCCACCACGCGCGCGTCCTTCTCG
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_001142854.1 331 Missense Mutation AAG,GAG K198E NP_001136326.1
NM_032261.4 331 Missense Mutation AAG,GAG K44E NP_115637.3
XM_005261188.4 331 Missense Mutation AAG,GAG K198E XP_005261245.1
XM_011529756.2 331 Missense Mutation AAG,GAG K84E XP_011528058.1
XM_017028480.1 331 Missense Mutation AAG,GAG K198E XP_016883969.1

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