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CATCTGGCTGTGGTGGGAATGCCCA[C/T]GGCGAGGGAGCCGCAGTTCAGTGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603336 MIM: 614912 | ||||||||||||||||||||
Literature Links: |
DNAH6 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 |
DNAH6 - dynein axonemal heavy chain 6 | ||||||
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There are no transcripts associated with this gene. |
TRABD2A - TraB domain containing 2A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001080824.2 | 1465 | Missense Mutation | CAT,CGT | H,R 420 | NP_001074293.1 | |
NM_001277053.1 | 1465 | Missense Mutation | CAT,CGT | H,R 469 | NP_001263982.1 | |
NM_001307978.1 | 1465 | Intron | NP_001294907.1 | |||
XM_011532504.1 | 1465 | Missense Mutation | CAT,CGT | H,R 366 | XP_011530806.1 |