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CCCTGGGTCTCAAGAGAAATCCGTG[A/C]GGAGAGGGAGGGGCTTTTCCATTCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 612374 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
TMEM173 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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TMEM173 - transmembrane protein 173 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001301738.1 | 1201 | UTR 3 | NP_001288667.1 | |||
NM_198282.3 | 1201 | Missense Mutation | CAC,CCC | H,P 375 | NP_938023.1 | |
XM_005268445.3 | 1201 | UTR 3 | XP_005268502.1 | |||
XM_011537639.2 | 1201 | Intron | XP_011535941.1 | |||
XM_011537640.2 | 1201 | Missense Mutation | XP_011535942.1 |