Product Details

SNP ID

rs201920289

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:104124106 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ACCTTCTTCGGAGGCTAAAACTAGT[C/G]AAAATGTATAGATCAAAGGTGAGAA

Phenotype

MIM: 616527

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

CFAP43 PubMed Links

Gene Details

Gene

CFAP43

Gene Name

cilia and flagella associated protein 43

There are no transcripts associated with this gene.

Gene

SFR1

Gene Name

SWI5 dependent homologous recombination repair protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002759.1	579	Silent Mutation	GTC,GTG	V176V	NP_001002759.1
NM_145247.4	579	Silent Mutation	GTC,GTG	V163V	NP_660290.3
XM_005269521.3	579	Silent Mutation	GTC,GTG	V238V	XP_005269578.1
XM_017015672.1	579	Silent Mutation	GTC,GTG	V163V	XP_016871161.1

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