Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GGCCAATTTGGAGGCAGAATCATCC[C/T]TGTTCTCCTCCTTGTCCTCCTCTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 614759 MIM: 609150 MIM: 156535 | ||||||||||||||||||||
Literature Links: |
CFAP53 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
CFAP53 - cilia and flagella associated protein 53 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
CXXC1 - CXXC finger protein 1 | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
MBD1 - methyl-CpG binding domain protein 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001204136.1 | 1885 | Missense Mutation | AAG,AGG | K,R 552 | NP_001191065.1 | |
NM_001204137.1 | 1885 | Missense Mutation | AAG,AGG | K,R 577 | NP_001191066.1 | |
NM_001204138.1 | 1885 | Missense Mutation | AAG,AGG | K,R 576 | NP_001191067.1 | |
NM_001204139.1 | 1885 | Missense Mutation | AAG,AGG | K,R 552 | NP_001191068.1 | |
NM_001204140.1 | 1885 | Missense Mutation | AAG,AGG | K,R 521 | NP_001191069.1 | |
NM_001204141.1 | 1885 | Missense Mutation | AAG,AGG | K,R 502 | NP_001191070.1 | |
NM_001204142.1 | 1885 | Missense Mutation | AAG,AGG | K,R 506 | NP_001191071.1 | |
NM_001204143.1 | 1885 | Missense Mutation | AAG,AGG | K,R 450 | NP_001191072.1 | |
NM_001204151.2 | 1885 | Missense Mutation | AAG,AGG | K,R 483 | NP_001191080.1 | |
NM_001323942.1 | 1885 | Missense Mutation | AAG,AGG | K,R 577 | NP_001310871.1 | |
NM_001323947.1 | 1885 | Missense Mutation | AAG,AGG | K,R 562 | NP_001310876.1 | |
NM_001323949.1 | 1885 | Missense Mutation | AAG,AGG | K,R 408 | NP_001310878.1 | |
NM_001323950.1 | 1885 | Missense Mutation | AAG,AGG | K,R 536 | NP_001310879.1 | |
NM_001323951.1 | 1885 | Missense Mutation | AAG,AGG | K,R 537 | NP_001310880.1 | |
NM_001323952.1 | 1885 | Missense Mutation | AAG,AGG | K,R 471 | NP_001310881.1 | |
NM_001323953.1 | 1885 | Missense Mutation | AAG,AGG | K,R 314 | NP_001310882.1 | |
NM_001323954.1 | 1885 | Missense Mutation | AAG,AGG | K,R 473 | NP_001310883.1 | |
NM_002384.2 | 1885 | Missense Mutation | AAG,AGG | K,R 450 | NP_002375.1 | |
NM_015844.2 | 1885 | Missense Mutation | AAG,AGG | K,R 496 | NP_056669.2 | |
NM_015845.3 | 1885 | Missense Mutation | AAG,AGG | K,R 483 | NP_056670.2 | |
NM_015846.3 | 1885 | Missense Mutation | AAG,AGG | K,R 552 | NP_056671.2 | |
NM_015847.3 | 1885 | Missense Mutation | AAG,AGG | K,R 503 | NP_056723.2 | |
XM_005258271.2 | 1885 | Missense Mutation | AAG,AGG | K,R 552 | XP_005258328.1 | |
XM_006722456.2 | 1885 | Missense Mutation | AAG,AGG | K,R 577 | XP_006722519.1 | |
XM_011525991.1 | 1885 | Missense Mutation | AAG,AGG | K,R 531 | XP_011524293.1 | |
XM_011525993.2 | 1885 | Missense Mutation | AAG,AGG | K,R 577 | XP_011524295.1 | |
XM_011525994.2 | 1885 | Missense Mutation | AAG,AGG | K,R 577 | XP_011524296.1 | |
XM_011525998.2 | 1885 | Missense Mutation | AAG,AGG | K,R 551 | XP_011524300.1 | |
XM_011525999.1 | 1885 | Missense Mutation | AAG,AGG | K,R 506 | XP_011524301.1 | |
XM_011526001.1 | 1885 | Missense Mutation | AAG,AGG | K,R 496 | XP_011524303.1 | |
XM_011526002.1 | 1885 | Missense Mutation | AAG,AGG | K,R 531 | XP_011524304.1 | |
XM_011526003.2 | 1885 | Missense Mutation | AAG,AGG | K,R 531 | XP_011524305.1 | |
XM_011526006.1 | 1885 | Missense Mutation | AAG,AGG | K,R 450 | XP_011524308.1 | |
XM_011526007.1 | 1885 | Missense Mutation | AAG,AGG | K,R 506 | XP_011524309.1 | |
XM_017025751.1 | 1885 | Missense Mutation | AAG,AGG | K,R 562 | XP_016881240.1 | |
XM_017025752.1 | 1885 | Missense Mutation | AAG,AGG | K,R 537 | XP_016881241.1 | |
XM_017025753.1 | 1885 | Missense Mutation | AAG,AGG | K,R 552 | XP_016881242.1 | |
XM_017025754.1 | 1885 | Missense Mutation | AAG,AGG | K,R 562 | XP_016881243.1 | |
XM_017025755.1 | 1885 | Missense Mutation | AAG,AGG | K,R 552 | XP_016881244.1 | |
XM_017025756.1 | 1885 | Missense Mutation | AAG,AGG | K,R 531 | XP_016881245.1 | |
XM_017025757.1 | 1885 | Missense Mutation | AAG,AGG | K,R 562 | XP_016881246.1 | |
XM_017025758.1 | 1885 | Missense Mutation | AAG,AGG | K,R 562 | XP_016881247.1 | |
XM_017025759.1 | 1885 | Missense Mutation | AAG,AGG | K,R 562 | XP_016881248.1 | |
XM_017025760.1 | 1885 | Missense Mutation | AAG,AGG | K,R 552 | XP_016881249.1 | |
XM_017025761.1 | 1885 | Missense Mutation | AAG,AGG | K,R 531 | XP_016881250.1 | |
XM_017025762.1 | 1885 | Missense Mutation | AAG,AGG | K,R 537 | XP_016881251.1 | |
XM_017025763.1 | 1885 | Missense Mutation | AAG,AGG | K,R 536 | XP_016881252.1 | |
XM_017025764.1 | 1885 | Missense Mutation | AAG,AGG | K,R 531 | XP_016881253.1 | |
XM_017025765.1 | 1885 | Missense Mutation | AAG,AGG | K,R 496 | XP_016881254.1 | |
XM_017025766.1 | 1885 | Missense Mutation | AAG,AGG | K,R 521 | XP_016881255.1 | |
XM_017025767.1 | 1885 | Missense Mutation | AAG,AGG | K,R 521 | XP_016881256.1 | |
XM_017025768.1 | 1885 | Missense Mutation | AAG,AGG | K,R 496 | XP_016881257.1 | |
XM_017025769.1 | 1885 | Missense Mutation | AAG,AGG | K,R 506 | XP_016881258.1 | |
XM_017025770.1 | 1885 | Missense Mutation | AAG,AGG | K,R 496 | XP_016881259.1 | |
XM_017025771.1 | 1885 | Missense Mutation | AAG,AGG | K,R 496 | XP_016881260.1 | |
XM_017025772.1 | 1885 | Missense Mutation | AAG,AGG | K,R 481 | XP_016881261.1 | |
XM_017025773.1 | 1885 | Missense Mutation | AAG,AGG | K,R 473 | XP_016881262.1 | |
XM_017025774.1 | 1885 | Missense Mutation | AAG,AGG | K,R 473 | XP_016881263.1 | |
XM_017025775.1 | 1885 | Missense Mutation | AAG,AGG | K,R 450 | XP_016881264.1 | |
XM_017025776.1 | 1885 | Missense Mutation | AAG,AGG | K,R 450 | XP_016881265.1 | |
XM_017025777.1 | 1885 | Missense Mutation | AAG,AGG | K,R 506 | XP_016881266.1 |