Product Details

SNP ID

rs14378

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.21:46161509 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

CAGCTTGCGCAGCGCGGCCGGGCTG[C/T]TGTGCAGGGGGTTGGCGCGCAGGTC

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	632	Missense Mutation			NP_001136326.1
NM_032261.4	632	Missense Mutation			NP_115637.3
XM_005261188.4	632	Missense Mutation			XP_005261245.1
XM_011529756.2	632	Missense Mutation			XP_011528058.1
XM_017028480.1	632	Missense Mutation			XP_016883969.1

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