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CTCCAGAGCCGAGGCGTGTGTTTGC[A/T]GAAGCTGCAGGTATCCAGCCAGCGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600502 MIM: 611834 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
IGHMBP2 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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IGHMBP2 - immunoglobulin mu binding protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002180.2 | 245 | Missense Mutation | CAG,CTG | Q,L 48 | NP_002171.2 | |
XM_005273974.2 | 245 | UTR 5 | XP_005274031.1 | |||
XM_005273975.3 | 245 | Intron | XP_005274032.1 | |||
XM_005273976.1 | 245 | Missense Mutation | CAG,CTG | Q,L 48 | XP_005274033.1 | |
XM_011544994.1 | 245 | Intron | XP_011543296.1 | |||
XM_017017669.1 | 245 | UTR 5 | XP_016873158.1 | |||
XM_017017670.1 | 245 | Intron | XP_016873159.1 | |||
XM_017017671.1 | 245 | Missense Mutation | CAG,CTG | Q,L 48 | XP_016873160.1 |
MRPL21 - mitochondrial ribosomal protein L21 | ||||||
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There are no transcripts associated with this gene. |