Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTGATGATGACTCCATGGGAATTCA[G/T]ATAGTCAAGGTAATGCCCCTGAACT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 615077 | ||||||||||||||||||||
Literature Links: |
TBC1D30 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 |
TBC1D30 - TBC1 domain family member 30 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_015279.1 | 707 | Missense Mutation | CAG,CAT | Q,H 133 | NP_056094.1 | |
XM_011538078.2 | 707 | Missense Mutation | CAG,CAT | Q,H 133 | XP_011536380.1 | |
XM_017019083.1 | 707 | Missense Mutation | CAG,CAT | Q,H 133 | XP_016874572.1 | |
XM_017019084.1 | 707 | Missense Mutation | CAG,CAT | Q,H 19 | XP_016874573.1 | |
XM_017019085.1 | 707 | Missense Mutation | CAG,CAT | Q,H 19 | XP_016874574.1 | |
XM_017019086.1 | 707 | Missense Mutation | CAG,CAT | Q,H 19 | XP_016874575.1 | |
XM_017019087.1 | 707 | Missense Mutation | CAG,CAT | Q,H 19 | XP_016874576.1 |