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GAGCAAGATTCCGAGTCTGACCCTG[A/G]TCCCGCGTCACATTGATAGTGGCGA
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 |
---|---|---|
Global - Not Available | Caucasian - Not Available | CEPH (CEU) - Not Available |
EAS - Not Available | African American - Not Available | YRI (Yoruba) - Not Available |
SAS - Not Available | Chinese - Not Available | CHB (Han Chinese) - Not Available |
AFR - Not Available | Japanese - Not Available | JPT (Japanese) - Not Available |
EUR - Not Available | ||
AMR - Not Available |
MAGIX - MAGI family member, X-linked | ||||||
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There are no transcripts associated with this gene. |
PLP2 - proteolipid protein 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_002668.2 | 1715 | Intron | NP_002659.1 |
PRICKLE3 - prickle planar cell polarity protein 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001307979.1 | 1715 | Missense Mutation | CCA,TCA | P,S 470 | NP_001294908.1 | |
NM_006150.4 | 1715 | Missense Mutation | CCA,TCA | P,S 538 | NP_006141.2 |