Product Details

SNP ID

rs78768512

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:87162788 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TTCAATATTTCCTCTGGTTCACCTT[C/T]TGATTATGTAACAAATACTTTTTGC

Phenotype

MIM: 611967

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

KLHL8 PubMed Links

Gene Details

Gene

KLHL8

Gene Name

kelch like family member 8

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001292003.1	2936	UTR 3			NP_001278932.1
NM_001292006.1	2936	UTR 3			NP_001278935.1
NM_001292007.1	2936	UTR 3			NP_001278936.1
NM_020803.4	2936	UTR 3			NP_065854.3

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