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TACAGCGTCTGCAGCAGACTGTGGC[A/G]GGCGAAGGAGCAGGATTCCAGGGCG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 616236 MIM: 602362 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
CHADL PubMed Links | ||||||||||||||||||||||||||||||||||||||
Allele Nomenclature: |
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Minor Allele Frequency: |
1000Genome | Applied Biosystems® | HapMap | |||
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Global
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Caucasian - Not Available | CEPH (CEU) - Not Available | |||
EAS
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African American - Not Available | YRI (Yoruba) - Not Available | |||
SAS
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Chinese - Not Available | CHB (Han Chinese) - Not Available | |||
AFR
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Japanese - Not Available | JPT (Japanese) - Not Available | |||
EUR
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AMR
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CHADL - chondroadherin like | ||||||
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There are no transcripts associated with this gene. |
MIR6889 - microRNA 6889 | ||||||
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There are no transcripts associated with this gene. |
RANGAP1 - Ran GTPase activating protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001278651.1 | 2161 | Missense Mutation | CGC,TGC | R,C 577 | NP_001265580.1 | |
NM_001317930.1 | 2161 | Missense Mutation | CGC,TGC | R,C 577 | NP_001304859.1 | |
NM_002883.3 | 2161 | Missense Mutation | CGC,TGC | R,C 577 | NP_002874.1 | |
XM_005261695.1 | 2161 | Missense Mutation | CGC,TGC | R,C 632 | XP_005261752.1 | |
XM_005261696.1 | 2161 | Missense Mutation | CGC,TGC | R,C 618 | XP_005261753.1 | |
XM_006724289.3 | 2161 | Missense Mutation | CGC,TGC | R,C 577 | XP_006724352.1 | |
XM_011530293.1 | 2161 | Missense Mutation | CGC,TGC | R,C 587 | XP_011528595.1 | |
XM_011530294.2 | 2161 | Missense Mutation | CGC,TGC | R,C 577 | XP_011528596.1 | |
XM_011530295.2 | 2161 | Missense Mutation | CGC,TGC | R,C 577 | XP_011528597.1 | |
XM_011530297.1 | 2161 | Intron | XP_011528599.1 | |||
XM_017028893.1 | 2161 | Missense Mutation | CGC,TGC | R,C 577 | XP_016884382.1 | |
XM_017028894.1 | 2161 | Missense Mutation | CGC,TGC | R,C 577 | XP_016884383.1 | |
XM_017028895.1 | 2161 | Missense Mutation | CGC,TGC | R,C 577 | XP_016884384.1 | |
XM_017028896.1 | 2161 | Missense Mutation | CGC,TGC | R,C 577 | XP_016884385.1 | |
XM_017028897.1 | 2161 | Missense Mutation | CGC,TGC | R,C 577 | XP_016884386.1 | |
XM_017028898.1 | 2161 | Missense Mutation | CGC,TGC | R,C 544 | XP_016884387.1 | |
XM_017028899.1 | 2161 | Missense Mutation | CGC,TGC | R,C 532 | XP_016884388.1 |