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TCAGAAATATGAGGGCACTCACCAA[A/G]GTCTGTAGAGACTTTCTCAAACTGG
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
9 submissions
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Phenotype: |
MIM: 610458 | ||||||||||||||||||||
Literature Links: |
LZIC 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 |
LZIC - leucine zipper and CTNNBIP1 domain containing | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001316973.1 | 857 | Missense Mutation | CTT,TTT | L,F 171 | NP_001303902.1 | |
NM_001316974.1 | 857 | Missense Mutation | CTT,TTT | L,F 192 | NP_001303903.1 | |
NM_001316975.1 | 857 | Missense Mutation | CTT,TTT | L,F 171 | NP_001303904.1 | |
NM_001316976.1 | 857 | Intron | NP_001303905.1 | |||
NM_032368.4 | 857 | Missense Mutation | CTT,TTT | L,F 171 | NP_115744.2 | |
XM_005263506.2 | 857 | Missense Mutation | CTT,TTT | L,F 171 | XP_005263563.1 | |
XM_005263509.2 | 857 | Intron | XP_005263566.1 | |||
XM_017002546.1 | 857 | Missense Mutation | CTT,TTT | L,F 171 | XP_016858035.1 | |
XM_017002547.1 | 857 | Missense Mutation | CTT,TTT | L,F 171 | XP_016858036.1 |