Product Details

SNP ID
rs182320468
Assay Type
Functionally tested
NCBI dbSNP Submissions
4
Location
Chr.1:205384314 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCTTCCCTTGGAAGGCTTATAATC[C/T]AAGCAATAGGTATCTACAGCTTTGC
Phenotype
MIM: 610480
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
LEMD1 PubMed Links

Gene Details

Gene
LEMD1
Gene Name
LEM domain containing 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001001552.4 611 Intron NP_001001552.3
NM_001199050.1 611 Silent Mutation TTA,TTG L107L NP_001185979.1
NM_001199051.1 611 Silent Mutation TTA,TTG L66L NP_001185980.1
NM_001199052.1 611 Intron NP_001185981.1
XM_011510160.2 611 Silent Mutation TTA,TTG L135L XP_011508462.1
XM_011510161.2 611 Silent Mutation TTA,TTG L135L XP_011508463.1
XM_011510162.2 611 Silent Mutation TTA,TTG L129L XP_011508464.1
XM_011510163.2 611 Silent Mutation TTA,TTG L94L XP_011508465.1
XM_011510164.2 611 UTR 3 XP_011508466.1
XM_011510165.2 611 UTR 3 XP_011508467.1
Gene
LEMD1-AS1
Gene Name
LEMD1 antisense RNA 1
There are no transcripts associated with this gene.

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