Product Details

SNP ID
rs143432898
Assay Type
Functionally Tested
NCBI dbSNP Submissions
NA
Location
Chr.14:52858438 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCATCTAAACTCTCGTTTTGGTCT[C/T]TTGCACGTGTTGAGAGAAATATGTA
Phenotype
MIM: 607746
Polymorphism
C/T, Transition Substitution
Allele Nomenclature
Literature Links
FERMT2 PubMed Links

Gene Details

Gene
FERMT2
Gene Name
fermitin family member 2
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001134999.1 2308 Missense Mutation AAA,AGA K668R NP_001128471.1
NM_001135000.1 2308 Intron NP_001128472.1
NM_006832.2 2308 Missense Mutation AAA,AGA K661R NP_006823.1
XM_005267285.2 2308 Missense Mutation AAA,AGA K672R XP_005267342.1
XM_006720008.2 2308 Missense Mutation AAA,AGA K687R XP_006720071.1
XM_006720009.2 2308 Missense Mutation AAA,AGA K679R XP_006720072.1
XM_006720010.2 2308 Missense Mutation AAA,AGA K676R XP_006720073.1

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