Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCCAATGGATCCAAAGTTGAACAAA[A/G]GACGAGGTTTTGTGTTTATCACCTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 602688 MIM: 614683 | ||||||||||||||||||||
Literature Links: |
HNRNPAB 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 |
HNRNPAB - heterogeneous nuclear ribonucleoprotein A/B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004499.3 | 837 | Missense Mutation | AGA,GGA | R,G 194 | NP_004490.2 | |
NM_031266.2 | 837 | Missense Mutation | AGA,GGA | R,G 194 | NP_112556.2 |
PHYKPL - 5-phosphohydroxy-L-lysine phospho-lyase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278346.1 | 837 | Intron | NP_001265275.1 | |||
NM_153373.3 | 837 | Intron | NP_699204.1 |