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CACACCCACATCGATGTGCACATCC[A/G]CCAGGAGTCTGCCCTGGCCAAGCTC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610334 MIM: 610385 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TMEM176A 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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TMEM176A - transmembrane protein 176A | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_018487.2 | 284 | Missense Mutation | CAC,CGC | H,R 24 | NP_060957.2 | |
XM_011516376.2 | 284 | Missense Mutation | CAC,CGC | H,R 41 | XP_011514678.1 | |
XM_011516377.2 | 284 | Missense Mutation | CAC,CGC | H,R 41 | XP_011514679.1 | |
XM_011516378.2 | 284 | Missense Mutation | CAC,CGC | H,R 41 | XP_011514680.1 | |
XM_017012393.1 | 284 | Missense Mutation | CAC,CGC | H,R 24 | XP_016867882.1 |
TMEM176B - transmembrane protein 176B | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001101311.1 | 284 | Intron | NP_001094781.1 | |||
NM_001101312.1 | 284 | Intron | NP_001094782.1 | |||
NM_001101314.1 | 284 | Intron | NP_001094784.1 | |||
NM_014020.3 | 284 | Intron | NP_054739.3 | |||
XM_006715933.3 | 284 | Intron | XP_006715996.2 |