Product Details

SNP ID

rs200561867

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.18:50272885 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GGCCAATTTGGAGGCAGAATCATCC[C/T]TGTTCTCCTCCTTGTCCTCCTCTGG

Phenotype

MIM: 614759 MIM: 609150 MIM: 156535

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CFAP53 PubMed Links

Gene Details

Gene

CFAP53

Gene Name

cilia and flagella associated protein 53

There are no transcripts associated with this gene.

Gene

CXXC1

Gene Name

CXXC finger protein 1

There are no transcripts associated with this gene.

Gene

MBD1

Gene Name

methyl-CpG binding domain protein 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001204136.1	1885	Missense Mutation	AAG,AGG	K552R	NP_001191065.1
NM_001204137.1	1885	Missense Mutation	AAG,AGG	K577R	NP_001191066.1
NM_001204138.1	1885	Missense Mutation	AAG,AGG	K576R	NP_001191067.1
NM_001204139.1	1885	Missense Mutation	AAG,AGG	K552R	NP_001191068.1
NM_001204140.1	1885	Missense Mutation	AAG,AGG	K521R	NP_001191069.1
NM_001204141.1	1885	Missense Mutation	AAG,AGG	K502R	NP_001191070.1
NM_001204142.1	1885	Missense Mutation	AAG,AGG	K506R	NP_001191071.1
NM_001204143.1	1885	Missense Mutation	AAG,AGG	K450R	NP_001191072.1
NM_001204151.2	1885	Missense Mutation	AAG,AGG	K483R	NP_001191080.1
NM_001323942.1	1885	Missense Mutation	AAG,AGG	K577R	NP_001310871.1
NM_001323947.1	1885	Missense Mutation	AAG,AGG	K562R	NP_001310876.1
NM_001323949.1	1885	Missense Mutation	AAG,AGG	K408R	NP_001310878.1
NM_001323950.1	1885	Missense Mutation	AAG,AGG	K536R	NP_001310879.1
NM_001323951.1	1885	Missense Mutation	AAG,AGG	K537R	NP_001310880.1
NM_001323952.1	1885	Missense Mutation	AAG,AGG	K471R	NP_001310881.1
NM_001323953.1	1885	Missense Mutation	AAG,AGG	K314R	NP_001310882.1
NM_001323954.1	1885	Missense Mutation	AAG,AGG	K473R	NP_001310883.1
NM_002384.2	1885	Missense Mutation	AAG,AGG	K450R	NP_002375.1
NM_015844.2	1885	Missense Mutation	AAG,AGG	K496R	NP_056669.2
NM_015845.3	1885	Missense Mutation	AAG,AGG	K483R	NP_056670.2
NM_015846.3	1885	Missense Mutation	AAG,AGG	K552R	NP_056671.2
NM_015847.3	1885	Missense Mutation	AAG,AGG	K503R	NP_056723.2
XM_005258271.2	1885	Missense Mutation	AAG,AGG	K552R	XP_005258328.1
XM_006722456.2	1885	Missense Mutation	AAG,AGG	K577R	XP_006722519.1
XM_011525991.1	1885	Missense Mutation	AAG,AGG	K531R	XP_011524293.1
XM_011525993.2	1885	Missense Mutation	AAG,AGG	K577R	XP_011524295.1
XM_011525994.2	1885	Missense Mutation	AAG,AGG	K577R	XP_011524296.1
XM_011525998.2	1885	Missense Mutation	AAG,AGG	K551R	XP_011524300.1
XM_011525999.1	1885	Missense Mutation	AAG,AGG	K506R	XP_011524301.1
XM_011526001.1	1885	Missense Mutation	AAG,AGG	K496R	XP_011524303.1
XM_011526002.1	1885	Missense Mutation	AAG,AGG	K531R	XP_011524304.1
XM_011526003.2	1885	Missense Mutation	AAG,AGG	K531R	XP_011524305.1
XM_011526006.1	1885	Missense Mutation	AAG,AGG	K450R	XP_011524308.1
XM_011526007.1	1885	Missense Mutation	AAG,AGG	K506R	XP_011524309.1
XM_017025751.1	1885	Missense Mutation	AAG,AGG	K562R	XP_016881240.1
XM_017025752.1	1885	Missense Mutation	AAG,AGG	K537R	XP_016881241.1
XM_017025753.1	1885	Missense Mutation	AAG,AGG	K552R	XP_016881242.1
XM_017025754.1	1885	Missense Mutation	AAG,AGG	K562R	XP_016881243.1
XM_017025755.1	1885	Missense Mutation	AAG,AGG	K552R	XP_016881244.1
XM_017025756.1	1885	Missense Mutation	AAG,AGG	K531R	XP_016881245.1
XM_017025757.1	1885	Missense Mutation	AAG,AGG	K562R	XP_016881246.1
XM_017025758.1	1885	Missense Mutation	AAG,AGG	K562R	XP_016881247.1
XM_017025759.1	1885	Missense Mutation	AAG,AGG	K562R	XP_016881248.1
XM_017025760.1	1885	Missense Mutation	AAG,AGG	K552R	XP_016881249.1
XM_017025761.1	1885	Missense Mutation	AAG,AGG	K531R	XP_016881250.1
XM_017025762.1	1885	Missense Mutation	AAG,AGG	K537R	XP_016881251.1
XM_017025763.1	1885	Missense Mutation	AAG,AGG	K536R	XP_016881252.1
XM_017025764.1	1885	Missense Mutation	AAG,AGG	K531R	XP_016881253.1
XM_017025765.1	1885	Missense Mutation	AAG,AGG	K496R	XP_016881254.1
XM_017025766.1	1885	Missense Mutation	AAG,AGG	K521R	XP_016881255.1
XM_017025767.1	1885	Missense Mutation	AAG,AGG	K521R	XP_016881256.1
XM_017025768.1	1885	Missense Mutation	AAG,AGG	K496R	XP_016881257.1
XM_017025769.1	1885	Missense Mutation	AAG,AGG	K506R	XP_016881258.1
XM_017025770.1	1885	Missense Mutation	AAG,AGG	K496R	XP_016881259.1
XM_017025771.1	1885	Missense Mutation	AAG,AGG	K496R	XP_016881260.1
XM_017025772.1	1885	Missense Mutation	AAG,AGG	K481R	XP_016881261.1
XM_017025773.1	1885	Missense Mutation	AAG,AGG	K473R	XP_016881262.1
XM_017025774.1	1885	Missense Mutation	AAG,AGG	K473R	XP_016881263.1
XM_017025775.1	1885	Missense Mutation	AAG,AGG	K450R	XP_016881264.1
XM_017025776.1	1885	Missense Mutation	AAG,AGG	K450R	XP_016881265.1
XM_017025777.1	1885	Missense Mutation	AAG,AGG	K506R	XP_016881266.1

View Full Product Details