Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCTGGCAGCTCCTGCTGCTCAAGAT[C/T]CCAGAGGAGGCGGCGGAGCCTACGG
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 610349 MIM: 609623 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
MAMSTR 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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MAMSTR - MEF2 activating motif and SAP domain containing transcriptional regulator | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001130915.1 | 2850 | Intron | NP_001124387.1 | |||
NM_001297753.1 | 2850 | Intron | NP_001284682.1 | |||
NM_182574.2 | 2850 | Intron | NP_872380.1 | |||
XM_011526807.2 | 2850 | Intron | XP_011525109.1 | |||
XM_011526808.2 | 2850 | Intron | XP_011525110.1 | |||
XM_011526809.2 | 2850 | Intron | XP_011525111.1 | |||
XM_017026640.1 | 2850 | Intron | XP_016882129.1 | |||
XM_017026641.1 | 2850 | Intron | XP_016882130.1 | |||
XM_017026642.1 | 2850 | Intron | XP_016882131.1 | |||
XM_017026643.1 | 2850 | Intron | XP_016882132.1 | |||
XM_017026644.1 | 2850 | Intron | XP_016882133.1 | |||
XM_017026645.1 | 2850 | Intron | XP_016882134.1 |
RASIP1 - Ras interacting protein 1 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017805.2 | 2850 | Missense Mutation | AAT,GAT | N,D 943 | NP_060275.2 | |
XM_011527053.2 | 2850 | Missense Mutation | AAT,GAT | N,D 1054 | XP_011525355.2 | |
XM_011527054.2 | 2850 | Intron | XP_011525356.2 | |||
XM_011527055.2 | 2850 | Missense Mutation | AAT,GAT | N,D 956 | XP_011525357.2 | |
XM_017026914.1 | 2850 | Missense Mutation | AAT,GAT | N,D 1044 | XP_016882403.1 | |
XM_017026915.1 | 2850 | Missense Mutation | AAT,GAT | N,D 946 | XP_016882404.1 |