Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACTCTGCTGGCTGAACCCTTCCAGA[A/C]GGTCCAACACACTCCGCATCCTTTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 131399 MIM: 609883 | ||||||||||||||||||||
Literature Links: |
EPX 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 |
EPX - eosinophil peroxidase | ||||||
---|---|---|---|---|---|---|
There are no transcripts associated with this gene. |
MKS1 - Meckel syndrome, type 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001165927.1 | 1633 | Missense Mutation | CAT,CCT | H,P 505 | NP_001159399.1 | |
NM_001321268.1 | 1633 | Missense Mutation | CAT,CCT | H,P 312 | NP_001308197.1 | |
NM_001321269.1 | 1633 | Silent Mutation | CCA,CCC | P,P 487 | NP_001308198.1 | |
NM_017777.3 | 1633 | Missense Mutation | CAT,CCT | H,P 515 | NP_060247.2 | |
XM_005257485.3 | 1633 | Silent Mutation | XP_005257542.1 | |||
XM_006721965.2 | 1633 | Silent Mutation | XP_006722028.1 | |||
XM_011524957.2 | 1633 | Silent Mutation | XP_011523259.1 | |||
XM_011524958.2 | 1633 | Missense Mutation | XP_011523260.1 | |||
XM_011524959.2 | 1633 | Missense Mutation | XP_011523261.1 | |||
XM_011524960.2 | 1633 | Intron | XP_011523262.1 | |||
XM_017024803.1 | 1633 | Missense Mutation | XP_016880292.1 | |||
XM_017024804.1 | 1633 | Intron | XP_016880293.1 | |||
XM_017024805.1 | 1633 | Missense Mutation | XP_016880294.1 |