Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
GCATCCTGCCCTCAGTCGGAATCCA[C/T]GGTGAACAGCTGGATGTCCTGTGGA
Species: |
Human | ||||||||||||||||||||
dbSNP Submissions: |
NA
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Phenotype: |
MIM: 607461 | ||||||||||||||||||||
Literature Links: |
DYM 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 |
DYM - dymeclin | ||||||
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Transcript Accession | SNP Location | SNP Type | Observed Codons | Observed Amino Acid | Protein ID | |
NM_017653.3 | 2170 | Missense Mutation | ATG,GTG | M,V 666 | NP_060123.3 | |
XM_006722488.2 | 2170 | UTR 3 | XP_006722551.1 | |||
XM_006722490.2 | 2170 | Intron | XP_006722553.1 | |||
XM_006722491.2 | 2170 | Intron | XP_006722554.1 | |||
XM_006722492.3 | 2170 | Intron | XP_006722555.1 | |||
XM_011526036.1 | 2170 | Missense Mutation | CAT,CGT | H,R 705 | XP_011524338.1 | |
XM_011526037.1 | 2170 | Missense Mutation | CAT,CGT | H,R 704 | XP_011524339.1 | |
XM_011526038.1 | 2170 | Missense Mutation | CAT,CGT | H,R 704 | XP_011524340.1 | |
XM_011526039.1 | 2170 | Intron | XP_011524341.1 | |||
XM_011526040.1 | 2170 | Missense Mutation | CAT,CGT | H,R 649 | XP_011524342.1 | |
XM_011526041.1 | 2170 | Missense Mutation | CAT,CGT | H,R 644 | XP_011524343.1 | |
XM_011526042.1 | 2170 | Intron | XP_011524344.1 | |||
XM_017025795.1 | 2170 | Missense Mutation | CAT,CGT | H,R 703 | XP_016881284.1 | |
XM_017025796.1 | 2170 | Missense Mutation | CAT,CGT | H,R 645 | XP_016881285.1 | |
XM_017025797.1 | 2170 | Missense Mutation | ATG,GTG | M,V 665 | XP_016881286.1 | |
XM_017025798.1 | 2170 | Missense Mutation | ATG,GTG | M,V 665 | XP_016881287.1 | |
XM_017025799.1 | 2170 | Missense Mutation | ATG,GTG | M,V 605 | XP_016881288.1 | |
XM_017025800.1 | 2170 | Missense Mutation | ATG,GTG | M,V 604 | XP_016881289.1 | |
XM_017025801.1 | 2170 | Missense Mutation | ATG,GTG | M,V 603 | XP_016881290.1 |
MIR4744 - microRNA 4744 | ||||||
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There are no transcripts associated with this gene. |