Product Details

SNP ID
rs181124955
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:17760028 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TAATCTTGGTGGGAAAACCATTGCA[A/G]TTGATCTGAGTCTCTGGGTGTGTGA
Phenotype
MIM: 612449 MIM: 609387
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
GEN1 PubMed Links

Gene Details

Gene
GEN1
Gene Name
GEN1, Holliday junction 5' flap endonuclease
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001130009.2 183 Missense Mutation ATT,GTT I29V NP_001123481.2
NM_182625.4 183 Missense Mutation ATT,GTT I29V NP_872431.4
XM_005262613.4 183 Missense Mutation ATT,GTT I29V XP_005262670.1
XM_006712005.3 183 Missense Mutation ATT,GTT I29V XP_006712068.1
XM_011532820.2 183 Missense Mutation ATT,GTT I29V XP_011531122.1
XM_011532821.2 183 Missense Mutation ATT,GTT I29V XP_011531123.1
XM_011532822.2 183 Missense Mutation ATT,GTT I29V XP_011531124.1
Gene
SMC6
Gene Name
structural maintenance of chromosomes 6
There are no transcripts associated with this gene.

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