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Search Thermo Fisher Scientific
GAGGGGCACCTGCTGGCCCTGGGGC[A/G]CCGCACAGACAGCCTGTACCGGCGC
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
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Literature Links: |
NHSL2 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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NHSL2 - NHS like 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001013627.2 | 188 | Missense Mutation | CAC,CGC | H,R 63 | NP_001013649.2 | |
XM_011530932.1 | 188 | Missense Mutation | CAC,CGC | H,R 63 | XP_011529234.1 | |
XM_011530933.1 | 188 | Missense Mutation | CAC,CGC | H,R 63 | XP_011529235.1 | |
XM_011530934.2 | 188 | Intron | XP_011529236.1 | |||
XM_017029473.1 | 188 | Intron | XP_016884962.1 | |||
XM_017029474.1 | 188 | Intron | XP_016884963.1 | |||
XM_017029475.1 | 188 | Intron | XP_016884964.1 | |||
XM_017029476.1 | 188 | Intron | XP_016884965.1 | |||
XM_017029477.1 | 188 | Intron | XP_016884966.1 |