Product Details

SNP ID

rs111984851

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.9:72056113 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCTTCTTTACAGTACTGACCAGGTT[C/T]TGCCTGGCAGGTTCCCAGGTCTAAA

Phenotype

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

C9orf57 PubMed Links

Gene Details

Gene

C9orf57

Gene Name

chromosome 9 open reading frame 57

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001128618.1	247	Missense Mutation	AAA,GAA	K103E	NP_001122090.1
XM_011518225.2	247	Missense Mutation	AAA,GAA	K53E	XP_011516527.1

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