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GGGCCGTTGGTGAGGAAATTTCACC[A/G]TTTGGTCTCCCCCTTTGTGGGTCAG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 608933 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
C8orf49 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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C8orf49 - chromosome 8 open reading frame 49 | ||||||
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There are no transcripts associated with this gene. |
NEIL2 - nei like DNA glycosylase 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001135746.1 | 710 | Missense Mutation | CAT,CGT | H,R 12 | NP_001129218.1 | |
NM_001135747.1 | 710 | Intron | NP_001129219.1 | |||
NM_001135748.1 | 710 | Missense Mutation | CAT,CGT | H,R 12 | NP_001129220.1 | |
NM_145043.2 | 710 | Missense Mutation | CAT,CGT | H,R 12 | NP_659480.1 | |
XM_005272382.2 | 710 | UTR 5 | XP_005272439.1 | |||
XM_005272383.2 | 710 | Intron | XP_005272440.1 | |||
XM_017013301.1 | 710 | UTR 5 | XP_016868790.1 |