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TAGGATTTCAGCGAGGCTGTGTTTA[C/T]TCTGGGTCTTCTTATGAAGGTCAGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 605211 MIM: 616533 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
BARHL1 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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BARHL1 - BarH like homeobox 1 | ||||||
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There are no transcripts associated with this gene. |
DDX31 - DEAD-box helicase 31 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001322340.1 | 1992 | Missense Mutation | AAT,AGT | N,S 706 | NP_001309269.1 | |
NM_001322341.1 | 1992 | Missense Mutation | AAT,AGT | N,S 683 | NP_001309270.1 | |
NM_001322342.1 | 1992 | Missense Mutation | AAT,AGT | N,S 602 | NP_001309271.1 | |
NM_001322343.1 | 1992 | Missense Mutation | AAT,AGT | N,S 650 | NP_001309272.1 | |
NM_001322344.1 | 1992 | Intron | NP_001309273.1 | |||
NM_022779.8 | 1992 | Missense Mutation | AAT,AGT | N,S 779 | NP_073616.6 | |
NM_138620.1 | 1992 | Intron | NP_619526.1 | |||
XM_005272207.4 | 1992 | Missense Mutation | AAT,AGT | N,S 683 | XP_005272264.1 | |
XM_006717236.3 | 1992 | UTR 3 | XP_006717299.1 | |||
XM_011518921.2 | 1992 | Intron | XP_011517223.1 | |||
XM_011518922.2 | 1992 | Intron | XP_011517224.1 |