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TTCTGCAACCTCACGACCGGATCAT[G/T]GGGCTGGACCTGCCCGATGGGGGCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 604637 MIM: 138450 | ||||||||||||||||||||
Literature Links: |
NDUFA4L2 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 |
NDUFA4L2 - NDUFA4, mitochondrial complex associated like 2 | ||||||
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There are no transcripts associated with this gene. |
NXPH4 - neurexophilin 4 | ||||||
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There are no transcripts associated with this gene. |
SHMT2 - serine hydroxymethyltransferase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001166356.1 | 595 | Missense Mutation | ATG,ATT | M,I 162 | NP_001159828.1 | |
NM_001166357.1 | 595 | Missense Mutation | ATG,ATT | M,I 141 | NP_001159829.1 | |
NM_001166358.1 | 595 | Missense Mutation | ATG,ATT | M,I 141 | NP_001159830.1 | |
NM_001166359.1 | 595 | Missense Mutation | ATG,ATT | M,I 141 | NP_001159831.1 | |
NM_005412.5 | 595 | Missense Mutation | ATG,ATT | M,I 162 | NP_005403.2 | |
XM_011538675.2 | 595 | Missense Mutation | TGG,TTG | W,L 57 | XP_011536977.1 | |
XM_011538676.2 | 595 | Missense Mutation | TGG,TTG | W,L 57 | XP_011536978.1 | |
XM_011538677.2 | 595 | Missense Mutation | TGG,TTG | W,L 57 | XP_011536979.1 | |
XM_011538678.2 | 595 | Missense Mutation | TGG,TTG | W,L 57 | XP_011536980.1 |