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TGTTGATCCACAAGGTCTCAAGAAC[C/T]CCTGTCCTCGTTCATGGAACCACTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 600608 | ||||||||||||||||||||
Literature Links: |
P4HA2 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 |
P4HA2 - prolyl 4-hydroxylase subunit alpha 2 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001017973.1 | 1480 | Missense Mutation | NP_001017973.1 | |||
NM_001017974.1 | 1480 | Missense Mutation | NP_001017974.1 | |||
NM_001142598.1 | 1480 | Missense Mutation | NP_001136070.1 | |||
NM_001142599.1 | 1480 | Missense Mutation | NP_001136071.1 | |||
NM_004199.2 | 1480 | Missense Mutation | NP_004190.1 | |||
XM_005272116.4 | 1480 | Missense Mutation | XP_005272173.1 | |||
XM_005272117.4 | 1480 | Missense Mutation | XP_005272174.1 | |||
XM_005272118.4 | 1480 | Missense Mutation | XP_005272175.1 | |||
XM_005272119.4 | 1480 | Missense Mutation | XP_005272176.1 | |||
XM_005272120.4 | 1480 | Missense Mutation | XP_005272177.1 | |||
XM_006714728.3 | 1480 | Missense Mutation | XP_006714791.1 | |||
XM_006714729.3 | 1480 | Missense Mutation | XP_006714792.1 | |||
XM_006714730.3 | 1480 | Missense Mutation | XP_006714793.1 | |||
XM_011543705.2 | 1480 | Missense Mutation | XP_011542007.1 | |||
XM_017010011.1 | 1480 | Missense Mutation | XP_016865500.1 | |||
XM_017010012.1 | 1480 | Missense Mutation | XP_016865501.1 |
P4HA2-AS1 - P4HA2 antisense RNA 1 | ||||||
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There are no transcripts associated with this gene. |