Product Details

SNP ID
rs200807604
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.2:202779639 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CCAGGCTGACATGTCTTGGTTGCCA[C/T]TGTTGGGGGCTATTAAAAAAGAAAA
Phenotype
Polymorphism
C/T, Transition substitution
Allele Nomenclature
Literature Links
FAM117B PubMed Links

Gene Details

Gene
FAM117B
Gene Name
family with sequence similarity 117 member B
There are no transcripts associated with this gene.

Gene
ICA1L
Gene Name
islet cell autoantigen 1 like
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_001288622.1 1844 Missense Mutation AAT,AGT N448S NP_001275551.1
NM_001288623.1 1844 Missense Mutation AAT,AGT N448S NP_001275552.1
NM_001288624.1 1844 Intron NP_001275553.1
NM_138468.5 1844 Missense Mutation AAT,AGT N448S NP_612477.3

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