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AGTATTGTTTTGTGTTGTTGAACTC[A/G]ATTTTGCTGTTGAAGGACCAGCAGA
Species: |
Human | ||||||||||||||||||||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 611355 | ||||||||||||||||||||||||||||||||||||||
Literature Links: |
ARHGEF38 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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ARHGEF38 - Rho guanine nucleotide exchange factor 38 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001242729.1 | 1836 | Intron | NP_001229658.1 | |||
NM_017700.1 | 1836 | Intron | NP_060170.1 | |||
XM_006714244.3 | 1836 | Intron | XP_006714307.1 | |||
XM_011532050.2 | 1836 | Intron | XP_011530352.1 | |||
XM_011532051.2 | 1836 | Intron | XP_011530353.1 |
INTS12 - integrator complex subunit 12 | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_001142471.1 | 1836 | Missense Mutation | NP_001135943.1 | |||
NM_020395.3 | 1836 | Missense Mutation | NP_065128.2 | |||
XM_005263148.4 | 1836 | Missense Mutation | XP_005263205.1 | |||
XM_011532143.2 | 1836 | Missense Mutation | XP_011530445.1 | |||
XM_011532145.2 | 1836 | Missense Mutation | XP_011530447.1 |