Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCGGGCTGGGGCATTTCTCCCCGAG[A/G]TGGCGGGTCTGACGGCGGCGGCCCC
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 130160 | ||||||||||||||||||||
Literature Links: |
ELN 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 |
ELN - elastin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_000501.3 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_000492.2 | |
NM_001081752.2 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_001075221.1 | |
NM_001081753.2 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_001075222.1 | |
NM_001081754.2 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_001075223.1 | |
NM_001081755.2 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_001075224.1 | |
NM_001278912.1 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_001265841.1 | |
NM_001278913.1 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_001265842.1 | |
NM_001278914.1 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_001265843.1 | |
NM_001278915.1 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_001265844.1 | |
NM_001278916.1 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_001265845.1 | |
NM_001278917.1 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_001265846.1 | |
NM_001278918.1 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_001265847.1 | |
NM_001278939.1 | 400 | Missense Mutation | ATG,GTG | M,V 1 | NP_001265868.1 |