Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TTCCTGGAGGAAGAGGATGAAGACC[C/G]CATCCCACCCAGCACCACGACCACC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615178 MIM: 191321 | ||||||||||||||||||||
Literature Links: |
KXD1 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 |
KXD1 - KxDL motif containing 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001171948.1 | 1224 | Missense Mutation | CCC,CGC | P,R 115 | NP_001165419.1 | |
NM_001171949.1 | 1224 | Missense Mutation | CCC,CGC | P,R 115 | NP_001165420.1 | |
NM_024069.3 | 1224 | Missense Mutation | CCC,CGC | P,R 115 | NP_076974.2 | |
XM_005260073.4 | 1224 | Intron | XP_005260130.1 | |||
XM_006722883.2 | 1224 | Missense Mutation | CCC,CGC | P,R 115 | XP_006722946.1 | |
XM_011528272.2 | 1224 | Missense Mutation | CCC,CGC | P,R 115 | XP_011526574.1 | |
XM_011528273.2 | 1224 | Missense Mutation | CCC,CGC | P,R 115 | XP_011526575.1 | |
XM_017027281.1 | 1224 | Missense Mutation | CCC,CGC | P,R 115 | XP_016882770.1 | |
XM_017027282.1 | 1224 | Intron | XP_016882771.1 |
UBA52 - ubiquitin A-52 residue ribosomal protein fusion product 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001033930.2 | 1224 | Intron | NP_001029102.1 | |||
NM_001321017.1 | 1224 | Intron | NP_001307946.1 | |||
NM_001321018.1 | 1224 | Intron | NP_001307947.1 | |||
NM_001321019.1 | 1224 | Intron | NP_001307948.1 | |||
NM_001321020.1 | 1224 | Intron | NP_001307949.1 | |||
NM_001321021.1 | 1224 | Intron | NP_001307950.1 | |||
NM_001321022.1 | 1224 | Intron | NP_001307951.1 | |||
NM_003333.4 | 1224 | Intron | NP_003324.1 | |||
XM_005260052.2 | 1224 | Intron | XP_005260109.1 | |||
XM_005260053.3 | 1224 | Intron | XP_005260110.1 | |||
XM_005260054.2 | 1224 | Intron | XP_005260111.1 | |||
XM_006722871.2 | 1224 | Intron | XP_006722934.1 | |||
XM_017027198.1 | 1224 | Intron | XP_016882687.1 |