Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GTCAATACATCATTGTAGATTGCTT[C/A]TCTTCGTTTAACATCAAGCTCCTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 300504 MIM: 300032 | ||||||||||||||||||||
Literature Links: |
ATRX 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 |
ATRX - ATRX, chromatin remodeler | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000489.4 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2388 | NP_000480.3 | |
NM_138270.3 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2350 | NP_612114.2 | |
XM_005262153.4 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2387 | XP_005262210.2 | |
XM_005262154.4 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2359 | XP_005262211.2 | |
XM_005262155.4 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2349 | XP_005262212.2 | |
XM_005262156.4 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2333 | XP_005262213.2 | |
XM_005262157.4 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2320 | XP_005262214.2 | |
XM_006724666.3 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2349 | XP_006724729.1 | |
XM_006724667.3 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2295 | XP_006724730.1 | |
XM_006724668.2 | 7444 | Intron | XP_006724731.1 | |||
XM_017029601.1 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2358 | XP_016885090.1 | |
XM_017029602.1 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2348 | XP_016885091.1 | |
XM_017029603.1 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2332 | XP_016885092.1 | |
XM_017029604.1 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2321 | XP_016885093.1 | |
XM_017029605.1 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2320 | XP_016885094.1 | |
XM_017029606.1 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2311 | XP_016885095.1 | |
XM_017029607.1 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2310 | XP_016885096.1 | |
XM_017029608.1 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2294 | XP_016885097.1 | |
XM_017029609.1 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2282 | XP_016885098.1 | |
XM_017029610.1 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2281 | XP_016885099.1 | |
XM_017029611.1 | 7444 | Nonsense Mutation | GAA,TAA | E,* 2266 | XP_016885100.1 |