Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TCTGACCCGCCATCATCGTTGGGCT[C/T]CCCTGGGGCCCAGTTGGAATAGACC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 178635 | ||||||||||||||||||||
Literature Links: |
BMS1P21 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 |
BMS1P21 - BMS1, ribosome biogenesis factor pseudogene 21 | ||||||
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There are no transcripts associated with this gene. |
SFTPD - surfactant protein D | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_003019.4 | 1064 | Missense Mutation | AAG,GAG | K,E 341 | NP_003010.4 | |
XM_011540087.1 | 1064 | Missense Mutation | AAG,GAG | K,E 341 | XP_011538389.1 | |
XM_011540088.2 | 1064 | Missense Mutation | AAG,GAG | K,E 302 | XP_011538390.1 |