Product Details

SNP ID

rs200144829

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:104132179 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTGAATACTAATCAGAGCCTCATA[A/G]TTTGGTTCATTTAGGTACTTTGAGA

Phenotype

MIM: 616527

Polymorphism

A/G, Transition 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	4350	Silent Mutation	AAC,AAT	N1538N	NP_079421.5
XM_005270171.2	4350	Silent Mutation	AAC,AAT	N1539N	XP_005270228.1
XM_005270172.3	4350	Silent Mutation	AAC,AAT	N1510N	XP_005270229.1
XM_011540196.2	4350	Silent Mutation	AAC,AAT	N1577N	XP_011538498.1
XM_011540197.2	4350	Silent Mutation	AAC,AAT	N1548N	XP_011538499.1
XM_011540198.2	4350	Silent Mutation	AAC,AAT	N1538N	XP_011538500.1
XM_011540199.2	4350	Silent Mutation	AAC,AAT	N1538N	XP_011538501.1
XM_011540200.2	4350	Silent Mutation	AAC,AAT	N1411N	XP_011538502.1
XM_011540201.2	4350	Intron			XP_011538503.1
XM_011540202.2	4350	Silent Mutation	AAC,AAT	N1320N	XP_011538504.1
XM_011540203.2	4350	Silent Mutation	AAC,AAT	N838N	XP_011538505.1
XM_017016681.1	4350	Silent Mutation	AAC,AAT	N1576N	XP_016872170.1
XM_017016682.1	4350	Silent Mutation	AAC,AAT	N1461N	XP_016872171.1
XM_017016683.1	4350	Silent Mutation	AAC,AAT	N1039N	XP_016872172.1
XM_017016684.1	4350	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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