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CGAATGATGAAGTTTGGAGGGAAAA[A/G]TCCGACCTTCTCCCCGATTTTCCCC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 138450 MIM: 615521 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NDUFA4L2 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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NDUFA4L2 - NDUFA4, mitochondrial complex associated like 2 | ||||||
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There are no transcripts associated with this gene. |
R3HDM2 - R3H domain containing 2 | ||||||
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There are no transcripts associated with this gene. |
SHMT2 - serine hydroxymethyltransferase 2 | ||||||
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There are no transcripts associated with this gene. |
STAC3 - SH3 and cysteine rich domain 3 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286256.1 | 1173 | Missense Mutation | CTT,TTT | L,F 256 | NP_001273185.1 | |
NM_001286257.1 | 1173 | Missense Mutation | CTT,TTT | L,F 109 | NP_001273186.1 | |
NM_145064.2 | 1173 | Missense Mutation | CTT,TTT | L,F 295 | NP_659501.1 | |
XM_011538126.2 | 1173 | Missense Mutation | CTT,TTT | L,F 295 | XP_011536428.1 |