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TCACCATCCACCATGGCGGGCTTGG[C/T]GGGCTCAATGCGAGACACAATTTCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608137 MIM: 612122 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NSMF 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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NSMF - NMDA receptor synaptonuclear signaling and neuronal migration factor | ||||||
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There are no transcripts associated with this gene. |
PNPLA7 - patatin like phospholipase domain containing 7 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001098537.2 | 4192 | Missense Mutation | ACC,GCC | T,A 1274 | NP_001092007.2 | |
NM_152286.4 | 4192 | Missense Mutation | ACC,GCC | T,A 1249 | NP_689499.4 | |
XM_006717102.1 | 4192 | Missense Mutation | ACC,GCC | T,A 1275 | XP_006717165.1 | |
XM_006717104.3 | 4192 | Missense Mutation | ACC,GCC | T,A 1241 | XP_006717167.1 | |
XM_011518664.2 | 4192 | Intron | XP_011516966.1 | |||
XM_017014709.1 | 4192 | Missense Mutation | ACC,GCC | T,A 1241 | XP_016870198.1 |