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CTGGCCCACACTGTTTTATACTTTG[C/T]TTTTTTTTGCAACAATTTACCCTGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
|
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Phenotype: |
MIM: 605904 | ||||||||||||||||||||
Literature Links: |
PDLIM5 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 |
PDLIM5 - PDZ and LIM domain 5 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001011513.3 | 551 | Intron | NP_001011513.3 | |||
NM_001011515.2 | 551 | Intron | NP_001011515.1 | |||
NM_001011516.2 | 551 | Intron | NP_001011516.1 | |||
NM_001256425.1 | 551 | Intron | NP_001243354.1 | |||
NM_001256426.1 | 551 | Intron | NP_001243355.1 | |||
NM_001256427.1 | 551 | Intron | NP_001243356.1 | |||
NM_001256428.1 | 551 | Intron | NP_001243357.1 | |||
NM_001256429.1 | 551 | Missense Mutation | CTT,TTT | L,F 124 | NP_001243358.1 | |
NM_006457.4 | 551 | Intron | NP_006448.4 | |||
XM_005262693.4 | 551 | Intron | XP_005262750.1 | |||
XM_005262695.4 | 551 | Intron | XP_005262752.1 | |||
XM_005262696.4 | 551 | Intron | XP_005262753.1 | |||
XM_005262698.4 | 551 | Intron | XP_005262755.1 | |||
XM_006714066.3 | 551 | Intron | XP_006714129.1 | |||
XM_006714068.3 | 551 | Intron | XP_006714131.1 | |||
XM_006714069.3 | 551 | Intron | XP_006714132.1 | |||
XM_006714070.3 | 551 | Intron | XP_006714133.1 | |||
XM_011531543.2 | 551 | Intron | XP_011529845.1 | |||
XM_017007657.1 | 551 | Intron | XP_016863146.1 | |||
XM_017007658.1 | 551 | Intron | XP_016863147.1 |