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TTGTAAGCAATGTGAAATTTTTCAT[C/T]AATCAACTGTCCCACATCTGGATAA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 606103 | ||||||||||||||||||||
Literature Links: |
ARMC2 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 |
ARMC2 - armadillo repeat containing 2 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001286609.1 | 1221 | Intron | NP_001273538.1 | |||
NM_032131.5 | 1221 | Intron | NP_115507.4 | |||
XM_005267154.3 | 1221 | Intron | XP_005267211.1 | |||
XM_005267155.2 | 1221 | Intron | XP_005267212.1 | |||
XM_005267157.3 | 1221 | Intron | XP_005267214.1 | |||
XM_006715573.2 | 1221 | Intron | XP_006715636.1 | |||
XM_006715574.2 | 1221 | Intron | XP_006715637.1 | |||
XM_011536166.1 | 1221 | Intron | XP_011534468.1 | |||
XM_011536167.1 | 1221 | Intron | XP_011534469.1 | |||
XM_011536168.2 | 1221 | Intron | XP_011534470.1 | |||
XM_011536170.2 | 1221 | Intron | XP_011534472.1 | |||
XM_011536172.2 | 1221 | Intron | XP_011534474.1 | |||
XM_011536176.2 | 1221 | Intron | XP_011534478.1 | |||
XM_017011350.1 | 1221 | Intron | XP_016866839.1 | |||
XM_017011351.1 | 1221 | Intron | XP_016866840.1 | |||
XM_017011352.1 | 1221 | Intron | XP_016866841.1 |
SESN1 - sestrin 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001199933.1 | 1221 | Missense Mutation | AAT,GAT | N,D 376 | NP_001186862.1 | |
NM_001199934.1 | 1221 | Missense Mutation | AAT,GAT | N,D 310 | NP_001186863.1 | |
NM_014454.2 | 1221 | Missense Mutation | AAT,GAT | N,D 435 | NP_055269.1 |