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SNP ID

rs142990469

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:3054179 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTTGGCCCTCTCAATGGCTCCCA[A/G]GACCTGCTGCTGGTGCTGGAAGGGG

Phenotype

MIM: 600188 MIM: 601041

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AES PubMed Links

Gene Details

Gene

AES

Gene Name

amino-terminal enhancer of split

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001130.5	486	Silent Mutation	CTG,TTG	L105L	NP_001121.2
NM_198969.1	486	Silent Mutation	CTG,TTG	L172L	NP_945320.1
NM_198970.1	486	Silent Mutation	CTG,TTG	L105L	NP_945321.1
XM_006722664.1	486	Silent Mutation	CTG,TTG	L172L	XP_006722727.1

Gene

TLE2

Gene Name

transducin like enhancer of split 2

There are no transcripts associated with this gene.

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