Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCTCGCATGTCTTGGGATAGAGAGT[C/T]GACAGAAATTCGGTACCGTAGACTT
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 603946 | ||||||||||||||||||||
Literature Links: |
HELLS 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 |
HELLS - helicase, lymphoid-specific | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001289067.1 | 334 | Missense Mutation | TCG,TTG | S,L 60 | NP_001275996.1 | |
NM_001289068.1 | 334 | Missense Mutation | TCG,TTG | S,L 44 | NP_001275997.1 | |
NM_001289069.1 | 334 | Missense Mutation | TCG,TTG | S,L 60 | NP_001275998.1 | |
NM_001289070.1 | 334 | Missense Mutation | TCG,TTG | S,L 60 | NP_001275999.1 | |
NM_001289071.1 | 334 | UTR 5 | NP_001276000.1 | |||
NM_001289072.1 | 334 | Missense Mutation | TCG,TTG | S,L 60 | NP_001276001.1 | |
NM_001289073.1 | 334 | UTR 5 | NP_001276002.1 | |||
NM_001289074.1 | 334 | UTR 5 | NP_001276003.1 | |||
NM_001289075.1 | 334 | UTR 5 | NP_001276004.1 | |||
NM_018063.4 | 334 | Missense Mutation | TCG,TTG | S,L 60 | NP_060533.2 |