Product Details

SNP ID

rs117391218

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.15:59207994 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CCTGGGAGAGAACGGTATTACCAAC[C/T]TTATAAAGATAAAGCTGACCCCTGA

Phenotype

MIM: 601479

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LDHAL6B PubMed Links

Gene Details

Gene

LDHAL6B

Gene Name

lactate dehydrogenase A like 6B

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_033195.2	1179	Missense Mutation	CTT,TTT	L352F	NP_149972.1

Gene

MYO1E

Gene Name

myosin IE

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004998.3	1179	Intron			NP_004989.2

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