Product Details

SNP ID

rs202084756

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:138947251 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCAGGCTGGCCAGTGTCCTGCCGA[A/G]CTGGGGGTCCTGACGGTAGCGGTCC

Phenotype

MIM: 608005

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

SIL1 PubMed Links

Gene Details

Gene

SIL1

Gene Name

SIL1 nucleotide exchange factor

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001037633.1	1495	Missense Mutation	CTC,TTC	L418F	NP_001032722.1
NM_022464.4	1495	Missense Mutation	CTC,TTC	L418F	NP_071909.1
XM_011543570.2	1495	Missense Mutation	CTC,TTC	L428F	XP_011541872.1

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