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ACTATAAAGCTCATTTTATTTTCCA[C/T]GCTATGGATCTGAAAACAAGTATCA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604214 | ||||||||||||||||||||
Literature Links: |
KRIT1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
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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 |
KRIT1 - KRIT1, ankyrin repeat containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001013406.1 | 2843 | Missense Mutation | ATG,GTG | M,V 654 | NP_001013424.1 | |
NM_004912.3 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | NP_004903.2 | |
NM_194454.1 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | NP_919436.1 | |
NM_194455.1 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | NP_919437.1 | |
NM_194456.1 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | NP_919438.1 | |
XM_005250660.3 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_005250717.1 | |
XM_005250662.3 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_005250719.1 | |
XM_005250665.3 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_005250722.1 | |
XM_005250666.3 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_005250723.1 | |
XM_005250667.2 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_005250724.1 | |
XM_005250668.3 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_005250725.1 | |
XM_005250669.3 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_005250726.1 | |
XM_006716161.3 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_006716224.1 | |
XM_006716162.3 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_006716225.1 | |
XM_006716163.3 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_006716226.1 | |
XM_011516651.2 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_011514953.1 | |
XM_011516653.2 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_011514955.1 | |
XM_011516654.2 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_011514956.1 | |
XM_011516655.2 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_011514957.1 | |
XM_011516656.2 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_011514958.1 | |
XM_011516657.2 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_011514959.1 | |
XM_011516658.2 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_011514960.1 | |
XM_011516659.2 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_011514961.1 | |
XM_011516660.2 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_011514962.1 | |
XM_011516661.2 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_011514963.1 | |
XM_017012755.1 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_016868244.1 | |
XM_017012756.1 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_016868245.1 | |
XM_017012757.1 | 2843 | Missense Mutation | ATG,GTG | M,V 702 | XP_016868246.1 | |
XM_017012758.1 | 2843 | Missense Mutation | ATG,GTG | M,V 464 | XP_016868247.1 | |
XM_017012759.1 | 2843 | Missense Mutation | ATG,GTG | M,V 464 | XP_016868248.1 |
MIR1285-1 - microRNA 1285-1 | ||||||
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There are no transcripts associated with this gene. |