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GGACCTGTGTGGCCCCAGTATCCCC[C/T]GCATGCTCGGGGCGCAGGGCAGGGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 601489 MIM: 610779 MIM: 611659 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IGFALS 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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IGFALS - insulin like growth factor binding protein acid labile subunit | ||||||
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There are no transcripts associated with this gene. |
NUBP2 - nucleotide binding protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001284501.1 | 743 | UTR 5 | NP_001271430.1 | |||
NM_001284502.1 | 743 | Intron | NP_001271431.1 | |||
NM_012225.3 | 743 | Missense Mutation | CGC,TGC | R,C 60 | NP_036357.1 | |
XM_005255027.2 | 743 | UTR 5 | XP_005255084.1 | |||
XM_005255030.1 | 743 | Intron | XP_005255087.1 | |||
XM_011522338.2 | 743 | Intron | XP_011520640.1 | |||
XM_017022831.1 | 743 | UTR 5 | XP_016878320.1 | |||
XM_017022832.1 | 743 | Intron | XP_016878321.1 |
SPSB3 - splA/ryanodine receptor domain and SOCS box containing 3 | ||||||
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There are no transcripts associated with this gene. |