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CGAGAGCGAGAGCCGGGGAGCCAGC[C/T]TGGATGGAGAGAGAGCGAGCCCCGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
KRBA1 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 |
KRBA1 - KRAB-A domain containing 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001290187.1 | 608 | Silent Mutation | CTG,TTG | L,L 130 | NP_001277116.1 | |
NM_032534.3 | 608 | Silent Mutation | CTG,TTG | L,L 95 | NP_115923.2 | |
XM_011516636.2 | 608 | Missense Mutation | CTG,TTG | L,L 167 | XP_011514938.1 | |
XM_011516637.2 | 608 | Missense Mutation | CTG,TTG | L,L 167 | XP_011514939.1 | |
XM_011516638.2 | 608 | Missense Mutation | CTG,TTG | L,L 152 | XP_011514940.1 | |
XM_011516639.2 | 608 | Missense Mutation | CTG,TTG | L,L 167 | XP_011514941.1 | |
XM_011516640.2 | 608 | Missense Mutation | CTG,TTG | L,L 167 | XP_011514942.1 | |
XM_011516641.2 | 608 | Silent Mutation | CTG,TTG | L,L 130 | XP_011514943.1 | |
XM_011516642.2 | 608 | Missense Mutation | CTG,TTG | L,L 95 | XP_011514944.1 | |
XM_011516643.2 | 608 | Missense Mutation | CTG,TTG | L,L 95 | XP_011514945.1 |