Product Details

SNP ID

rs117628923

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:104132169 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATTATTCCAATCTGAATACTAATCA[C/G]AGCCTCATAGTTTGGTTCATTTAGG

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

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_025145.5	4360	Missense Mutation	CTG,GTG	L1542V	NP_079421.5
XM_005270171.2	4360	Missense Mutation	CTG,GTG	L1543V	XP_005270228.1
XM_005270172.3	4360	Missense Mutation	CTG,GTG	L1514V	XP_005270229.1
XM_011540196.2	4360	Missense Mutation	CTG,GTG	L1581V	XP_011538498.1
XM_011540197.2	4360	Missense Mutation	CTG,GTG	L1552V	XP_011538499.1
XM_011540198.2	4360	Missense Mutation	CTG,GTG	L1542V	XP_011538500.1
XM_011540199.2	4360	Missense Mutation	CTG,GTG	L1542V	XP_011538501.1
XM_011540200.2	4360	Missense Mutation	CTG,GTG	L1415V	XP_011538502.1
XM_011540201.2	4360	Intron			XP_011538503.1
XM_011540202.2	4360	Missense Mutation	CTG,GTG	L1324V	XP_011538504.1
XM_011540203.2	4360	Missense Mutation	CTG,GTG	L842V	XP_011538505.1
XM_017016681.1	4360	Missense Mutation	CTG,GTG	L1580V	XP_016872170.1
XM_017016682.1	4360	Missense Mutation	CTG,GTG	L1465V	XP_016872171.1
XM_017016683.1	4360	Missense Mutation	CTG,GTG	L1043V	XP_016872172.1
XM_017016684.1	4360	Intron			XP_016872173.1

Gene

SFR1

Gene Name

SWI5 dependent homologous recombination repair protein 1

There are no transcripts associated with this gene.

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