Product Details

SNP ID
rs138638304
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.21:46161497 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CACGTCGATGACCAGCTTGCGCAGC[A/G]CGGCCGGGCTGCTGTGCAGGGGGTT
Phenotype
MIM: 606806 MIM: 612412
Polymorphism
A/G, 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_001142854.1 644 Missense Mutation GCG,GTG A302V NP_001136326.1
NM_032261.4 644 Missense Mutation GCG,GTG A148V NP_115637.3
XM_005261188.4 644 Missense Mutation GCG,GTG A302V XP_005261245.1
XM_011529756.2 644 Missense Mutation GCG,GTG A188V XP_011528058.1
XM_017028480.1 644 Missense Mutation GCG,GTG A302V XP_016883969.1

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