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Search Thermo Fisher Scientific
GCCCTGGAAGACTATAAATCTATAT[C/T]AGAAAAAGATCCATCAATACATCAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601963 | ||||||||||||||||||||
Literature Links: |
PWWP2A 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 |
PWWP2A - PWWP domain containing 2A | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130864.1 | 767 | Intron | NP_001124336.1 | |||
NM_001267035.1 | 767 | Intron | NP_001253964.1 | |||
NM_052927.2 | 767 | Intron | NP_443159.1 | |||
XM_005265811.3 | 767 | Intron | XP_005265868.1 | |||
XM_005265812.2 | 767 | Intron | XP_005265869.1 | |||
XM_006714817.3 | 767 | Intron | XP_006714880.1 | |||
XM_011534424.2 | 767 | Intron | XP_011532726.1 | |||
XM_017009009.1 | 767 | Intron | XP_016864498.1 | |||
XM_017009010.1 | 767 | Intron | XP_016864499.1 | |||
XM_017009011.1 | 767 | Intron | XP_016864500.1 | |||
XM_017009012.1 | 767 | Intron | XP_016864501.1 |
TTC1 - tetratricopeptide repeat domain 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001282500.1 | 767 | Missense Mutation | TCA,TTA | S,L 216 | NP_001269429.1 | |
NM_003314.2 | 767 | Missense Mutation | TCA,TTA | S,L 216 | NP_003305.1 |