Product Details

SNP ID

rs117319917

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.13:69701050 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGTGTTTGCCAGTTTCAGATTGCCA[A/G]TATGGTTGCAATAAAATTCAACCAT

Phenotype

MIM: 605332

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

KLHL1 PubMed Links

Gene Details

Gene

KLHL1

Gene Name

kelch like family member 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001286725.1	3693	UTR 3			NP_001273654.1
NM_020866.2	3693	UTR 3			NP_065917.1
XM_017020678.1	3693	UTR 3			XP_016876167.1
XM_017020679.1	3693	UTR 3			XP_016876168.1

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