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GCAGGGCTACGGGCCTGGCTATGGC[A/G]GCTACGACTACTCGCCCTATGGCTA
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 | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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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 | 1131 | Intron | NP_004490.2 | |||
NM_031266.2 | 1131 | Missense Mutation | AGC,GGC | S,G 292 | 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 | 1131 | Intron | NP_001265275.1 | |||
NM_153373.3 | 1131 | Intron | NP_699204.1 | |||
XM_006714925.2 | 1131 | Intron | XP_006714988.1 | |||
XM_011534669.2 | 1131 | Intron | XP_011532971.1 | |||
XM_011534670.2 | 1131 | Intron | XP_011532972.1 | |||
XM_011534671.2 | 1131 | Intron | XP_011532973.1 | |||
XM_011534672.2 | 1131 | Intron | XP_011532974.1 | |||
XM_011534674.2 | 1131 | Intron | XP_011532976.1 | |||
XM_011534676.2 | 1131 | Intron | XP_011532978.1 | |||
XM_017009995.1 | 1131 | Intron | XP_016865484.1 | |||
XM_017009996.1 | 1131 | Intron | XP_016865485.1 | |||
XM_017009997.1 | 1131 | Intron | XP_016865486.1 | |||
XM_017009998.1 | 1131 | Intron | XP_016865487.1 | |||
XM_017009999.1 | 1131 | Intron | XP_016865488.1 |