Product Details

SNP ID

rs144057351

Assay Type

Functionally tested

NCBI dbSNP Submissions

5

Location

Chr.1:114776425 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AACTGCTTTCCTCATCACTTCTCCC[A/G]TTTCACAGATTCTGTCAATCTGACT

Phenotype

MIM: 611656

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SIKE1 PubMed Links

Gene Details

Gene

SIKE1

Gene Name

suppressor of IKBKE 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001102396.1	523	Missense Mutation	ACG,ATG	T152M	NP_001095866.1
NM_025073.2	523	Missense Mutation	ACG,ATG	T148M	NP_079349.2

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