Product Details

SNP ID

rs149481630

Assay Type

Functionally Tested

NCBI dbSNP Submissions

NA

Location

Chr.21:46161952 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTCGGGGATGTTGGCCACCGTGAA[A/G]CCGTAGAGCCGCGTCACGCCCGGGA

Phenotype

MIM: 606806 MIM: 612412

Polymorphism

A/G, Transition Substitution

Allele Nomenclature

Literature Links

FTCD PubMed Links

Additional Information

For this assay, SNP(s) [rs113710653] are located under a primer sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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	399	Silent Mutation	GGC,GGT	G220G	NP_001136326.1
NM_032261.4	399	Silent Mutation	GGC,GGT	G66G	NP_115637.3
XM_005261188.4	399	Silent Mutation	GGC,GGT	G220G	XP_005261245.1
XM_011529756.2	399	Silent Mutation	GGC,GGT	G106G	XP_011528058.1
XM_017028480.1	399	Silent Mutation	GGC,GGT	G220G	XP_016883969.1

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