Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CTCCTCAAACCTAACGATGCCGCCG[C/G]AGCGGAGGAGACGAATGAAACTGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612816 | ||||||||||||||||||||
Literature Links: |
MBTD1 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 |
MBTD1 - mbt domain containing 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017643.2 | 38 | Intron | NP_060113.2 | |||
XM_005257467.4 | 38 | Intron | XP_005257524.1 | |||
XM_005257468.4 | 38 | Intron | XP_005257525.1 | |||
XM_011524922.2 | 38 | Intron | XP_011523224.1 | |||
XM_011524923.2 | 38 | Intron | XP_011523225.1 | |||
XM_011524924.2 | 38 | Intron | XP_011523226.1 | |||
XM_011524925.1 | 38 | Intron | XP_011523227.1 | |||
XM_011524926.2 | 38 | Intron | XP_011523228.1 | |||
XM_011524928.2 | 38 | Intron | XP_011523230.1 | |||
XM_011524929.2 | 38 | Intron | XP_011523231.1 | |||
XM_011524930.1 | 38 | Intron | XP_011523232.1 | |||
XM_011524931.2 | 38 | Intron | XP_011523233.1 | |||
XM_011524933.2 | 38 | Intron | XP_011523235.1 | |||
XM_011524934.2 | 38 | Intron | XP_011523236.1 | |||
XM_011524935.2 | 38 | Intron | XP_011523237.1 | |||
XM_011524936.1 | 38 | Intron | XP_011523238.1 | |||
XM_017024782.1 | 38 | Intron | XP_016880271.1 |
UTP18 - UTP18, small subunit processome component | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_016001.2 | 38 | Intron | NP_057085.2 | |||
XM_006721930.3 | 38 | Missense Mutation | CAG,GAG | Q,E 4 | XP_006721993.2 | |
XM_011524870.2 | 38 | Missense Mutation | CAG,GAG | Q,E 4 | XP_011523172.1 |