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GGAGCCCGAGAGGGTGGCGCTCCGG[C/T]GGGCCTCGGGGGCACCCAGCCGGAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607350 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
HMBOX1 PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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HMBOX1 - homeobox containing 1 | ||||||
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There are no transcripts associated with this gene. |
KIF13B - kinesin family member 13B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015254.3 | 5473 | Missense Mutation | CAC,CGC | H,R 1789 | NP_056069.2 | |
XM_005273458.1 | 5473 | Missense Mutation | CAC,CGC | H,R 1768 | XP_005273515.1 | |
XM_011544457.1 | 5473 | Missense Mutation | CAC,CGC | H,R 1810 | XP_011542759.1 | |
XM_011544458.1 | 5473 | Missense Mutation | CAC,CGC | H,R 1789 | XP_011542760.1 | |
XM_011544459.2 | 5473 | Missense Mutation | CAC,CGC | H,R 1746 | XP_011542761.1 | |
XM_011544460.2 | 5473 | Missense Mutation | CAC,CGC | H,R 1746 | XP_011542762.1 | |
XM_011544461.1 | 5473 | Missense Mutation | CAC,CGC | H,R 1746 | XP_011542763.1 | |
XM_017013257.1 | 5473 | Intron | XP_016868746.1 |