Product Details

SNP ID

rs75388024

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.5:123099837 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCACCAGTACTGTGCCCGGCCTGG[C/T]CTACGGCATCTGCGCGGCGCAGAGG

Phenotype

MIM: 616982

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PRDM6 PubMed Links

Gene Details

Gene

PRDM6

Gene Name

PR domain 6

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001136239.1	1228	Missense Mutation	GCC,GTC	A259V	NP_001129711.1
XM_011543726.2	1228	Missense Mutation	GCC,GTC	A59V	XP_011542028.1

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