Product Details

SNP ID

rs139972724

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:104133677 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GAATATCCCAAGCCTTCTGATTTAG[A/G]TCTTCCCTTTCCATCTCCATTTTCT

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	4275	Silent Mutation	GAC,GAT	D1513D	NP_079421.5
XM_005270171.2	4275	Silent Mutation	GAC,GAT	D1514D	XP_005270228.1
XM_005270172.3	4275	Silent Mutation	GAC,GAT	D1485D	XP_005270229.1
XM_011540196.2	4275	Silent Mutation	GAC,GAT	D1552D	XP_011538498.1
XM_011540197.2	4275	Silent Mutation	GAC,GAT	D1523D	XP_011538499.1
XM_011540198.2	4275	Silent Mutation	GAC,GAT	D1513D	XP_011538500.1
XM_011540199.2	4275	Silent Mutation	GAC,GAT	D1513D	XP_011538501.1
XM_011540200.2	4275	Silent Mutation	GAC,GAT	D1386D	XP_011538502.1
XM_011540201.2	4275	Intron			XP_011538503.1
XM_011540202.2	4275	Silent Mutation	GAC,GAT	D1295D	XP_011538504.1
XM_011540203.2	4275	Silent Mutation	GAC,GAT	D813D	XP_011538505.1
XM_017016681.1	4275	Silent Mutation	GAC,GAT	D1551D	XP_016872170.1
XM_017016682.1	4275	Silent Mutation	GAC,GAT	D1436D	XP_016872171.1
XM_017016683.1	4275	Silent Mutation	GAC,GAT	D1014D	XP_016872172.1
XM_017016684.1	4275	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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