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CCATGCCTCCCATCATTTGGCTACC[A/G]TAAGCACCACCGCTTGCTCCTGCTG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 601035 MIM: 610327 | ||||||||||||||||||||
Literature Links: |
HNRNPH1 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 |
HNRNPH1 - heterogeneous nuclear ribonucleoprotein H1 (H) | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001257293.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 392 | NP_001244222.1 | |
NM_005520.2 | 1131 | Intron | NP_005511.1 | |||
XM_005265895.2 | 1131 | Silent Mutation | TAC,TAT | Y,Y 392 | XP_005265952.1 | |
XM_005265896.2 | 1131 | Silent Mutation | TAC,TAT | Y,Y 392 | XP_005265953.1 | |
XM_005265901.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 191 | XP_005265958.1 | |
XM_005265902.4 | 1131 | Silent Mutation | TAC,TAT | Y,Y 191 | XP_005265959.1 | |
XM_006714862.2 | 1131 | Intron | XP_006714925.1 | |||
XM_006714863.2 | 1131 | Intron | XP_006714926.1 | |||
XM_011534542.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 392 | XP_011532844.1 | |
XM_011534544.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 392 | XP_011532846.1 | |
XM_011534545.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 392 | XP_011532847.1 | |
XM_011534546.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 392 | XP_011532848.1 | |
XM_011534547.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 392 | XP_011532849.1 | |
XM_017009414.1 | 1131 | Intron | XP_016864903.1 | |||
XM_017009415.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 392 | XP_016864904.1 | |
XM_017009416.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 392 | XP_016864905.1 | |
XM_017009417.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 392 | XP_016864906.1 | |
XM_017009418.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 392 | XP_016864907.1 | |
XM_017009419.1 | 1131 | Intron | XP_016864908.1 | |||
XM_017009420.1 | 1131 | Intron | XP_016864909.1 | |||
XM_017009421.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 191 | XP_016864910.1 | |
XM_017009422.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 191 | XP_016864911.1 | |
XM_017009423.1 | 1131 | Silent Mutation | TAC,TAT | Y,Y 191 | XP_016864912.1 | |
XM_017009424.1 | 1131 | Intron | XP_016864913.1 | |||
XM_017009425.1 | 1131 | Intron | XP_016864914.1 |
RUFY1 - RUN and FYVE domain containing 1 | ||||||
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There are no transcripts associated with this gene. |