Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
ACAAGGGAGGAGAGTTATGTCAGTC[C/T]AATTTCTTCAAGAACACTACGTGGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300629 MIM: 300028 | ||||||||||||||||||||
Literature Links: |
AP1S2 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 |
AP1S2 - adaptor related protein complex 1 sigma 2 subunit | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001272071.1 | 799 | Missense Mutation | AGA,GGA | R,G 158 | NP_001259000.1 | |
NM_003916.4 | 799 | Missense Mutation | AGA,GGA | R,G 155 | NP_003907.3 | |
XM_005274614.3 | 799 | Intron | XP_005274671.1 | |||
XM_011545599.1 | 799 | Intron | XP_011543901.1 | |||
XM_017029925.1 | 799 | Intron | XP_016885414.1 | |||
XM_017029926.1 | 799 | Intron | XP_016885415.1 |
ZRSR2 - zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_005089.3 | 799 | Intron | NP_005080.1 |