Product Details

SNP ID

rs4619761

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.3:113446441 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AAGAAGTATATGGCTTGTTTTTCCT[A/T]AAAAGGTAAATTAGTATTTCTTTTC

Phenotype

MIM: 613447

Polymorphism

A/T, Transversion substitution

Allele Nomenclature

Literature Links

CFAP44 PubMed Links

Gene Details

Gene

CFAP44

Gene Name

cilia and flagella associated protein 44

There are no transcripts associated with this gene.

Gene

SPICE1

Gene Name

spindle and centriole associated protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_144718.3		Intron			NP_653319.1
XM_011512461.2		Intron			XP_011510763.1
XM_017005775.1		Intron			XP_016861264.1
XM_017005776.1		Intron			XP_016861265.1
XM_017005777.1		Intron			XP_016861266.1
XM_017005778.1		Intron			XP_016861267.1

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