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GGTGCCTCCTGTGTGCCCCAGACCA[C/T]GTCCGCTGATCATTGGCACCTGGTG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611230 MIM: 604272 MIM: 131222 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
NCAPH2 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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NCAPH2 - non-SMC condensin II complex subunit H2 | ||||||
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There are no transcripts associated with this gene. |
ODF3B - outer dense fiber of sperm tails 3B | ||||||
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There are no transcripts associated with this gene. |
SCO2 - SCO2 cytochrome c oxidase assembly protein | ||||||
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There are no transcripts associated with this gene. |
TYMP - thymidine phosphorylase | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001113755.2 | 664 | Missense Mutation | CAT,CGT | H,R 146 | NP_001107227.1 | |
NM_001113756.2 | 664 | Missense Mutation | CAT,CGT | H,R 146 | NP_001107228.1 | |
NM_001257988.1 | 664 | Missense Mutation | CAT,CGT | H,R 146 | NP_001244917.1 | |
NM_001257989.1 | 664 | Missense Mutation | CAT,CGT | H,R 146 | NP_001244918.1 | |
NM_001953.4 | 664 | Missense Mutation | CAT,CGT | H,R 146 | NP_001944.1 |