Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
CAGGTTGCCAAGATCCTGCCAGAAG[A/G]CTAAGTGGGGAAACTGCTCCATTCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 154540 MIM: 602978 | ||||||||||||||||||||
Literature Links: |
M6PR 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 |
M6PR - mannose-6-phosphate receptor, cation dependent | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001207024.1 | 955 | Intron | NP_001193953.1 | |||
NM_002355.3 | 955 | Missense Mutation | GCC,GTC | A,V 227 | NP_002346.1 | |
XM_005253376.2 | 955 | Missense Mutation | GCC,GTC | A,V 227 | XP_005253433.1 |
PHC1 - polyhomeotic homolog 1 | ||||||
---|---|---|---|---|---|---|
Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_004426.2 | 955 | Intron | NP_004417.2 | |||
XM_005253334.2 | 955 | Intron | XP_005253391.1 | |||
XM_011520599.2 | 955 | Intron | XP_011518901.1 | |||
XM_011520600.2 | 955 | Intron | XP_011518902.1 | |||
XM_011520603.2 | 955 | Intron | XP_011518905.1 | |||
XM_017018955.1 | 955 | Intron | XP_016874444.1 | |||
XM_017018956.1 | 955 | Intron | XP_016874445.1 | |||
XM_017018957.1 | 955 | Intron | XP_016874446.1 | |||
XM_017018958.1 | 955 | Intron | XP_016874447.1 |