Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
TAGCTACTCTGCACCCACTTCATCA[G/T]CCCCACCACCACCACCACCACCATC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
||||||||||||||||||||
Phenotype: |
MIM: 610368 | ||||||||||||||||||||
Literature Links: |
LRCH1 PubMed Links | ||||||||||||||||||||
Allele Nomenclature: |
|||||||||||||||||||||
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 |
LRCH1 - leucine rich repeats and calponin homology domain containing 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001164211.1 | 186 | Missense Mutation | CAG,CAT | Q,H 25 | NP_001157683.1 | |
NM_001164213.1 | 186 | Missense Mutation | CAG,CAT | Q,H 25 | NP_001157685.1 | |
NM_015116.2 | 186 | Missense Mutation | CAG,CAT | Q,H 25 | NP_055931.1 | |
XM_017020483.1 | 186 | Missense Mutation | CAG,CAT | Q,H 25 | XP_016875972.1 | |
XM_017020484.1 | 186 | UTR 5 | XP_016875973.1 |