Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CCTGGATACCTTCCCATAACCACTC[C/T]GCTGGTCTAAAATAAAACAAGTGTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601324 | ||||||||||||||||||||
Literature Links: |
HNRNPD 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 |
HNRNPD - heterogeneous nuclear ribonucleoprotein D | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001003810.1 | 1178 | Missense Mutation | CAG,CGG | Q,R 268 | NP_001003810.1 | |
NM_002138.3 | 1178 | Missense Mutation | CAG,CGG | Q,R 287 | NP_002129.2 | |
NM_031369.2 | 1178 | Missense Mutation | CAG,CGG | Q,R 317 | NP_112737.1 | |
NM_031370.2 | 1178 | Missense Mutation | CAG,CGG | Q,R 336 | NP_112738.1 |