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CTGCTGAAGGATGGCCCAGCACAGC[A/G]CTGTGGTCGTTTGGAGGTGAGCCCT
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 300112 MIM: 300111 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MAGIX 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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MAGIX - MAGI family member, X-linked | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001099681.2 | 559 | Intron | NP_001093151.2 | |||
NM_001099682.2 | 559 | Intron | NP_001093152.2 | |||
NM_024859.3 | 559 | Missense Mutation | CAC,CGC | H,R 164 | NP_079135.3 | |
XM_005278062.4 | 559 | Missense Mutation | CAC,CGC | H,R 149 | XP_005278119.1 | |
XM_005278063.4 | 559 | Missense Mutation | CAC,CGC | H,R 149 | XP_005278120.1 | |
XM_005278064.4 | 559 | Missense Mutation | CAC,CGC | H,R 105 | XP_005278121.1 | |
XM_005278065.3 | 559 | Missense Mutation | CAC,CGC | H,R 105 | XP_005278122.1 | |
XM_006724560.3 | 559 | Missense Mutation | CAC,CGC | H,R 164 | XP_006724623.1 | |
XM_011543985.2 | 559 | Missense Mutation | CAC,CGC | H,R 105 | XP_011542287.1 | |
XM_011543986.2 | 559 | Missense Mutation | CAC,CGC | H,R 105 | XP_011542288.1 | |
XM_011543987.2 | 559 | Missense Mutation | CAC,CGC | H,R 105 | XP_011542289.1 |
PLP2 - proteolipid protein 2 | ||||||
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There are no transcripts associated with this gene. |
PRICKLE3 - prickle planar cell polarity protein 3 | ||||||
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There are no transcripts associated with this gene. |