Product Details

SNP ID

rs3741628

Assay Type

Validated

NCBI dbSNP Submissions

NA

Location

Chr.12:48654955 on Build GRCh38

Set Membership

HapMap Validated

Context Sequence [VIC/FAM]

TCTTCACTTGCCAAAATATCCACTG[G/T]GTCTTCAGCAATTTCTTTGACTAAA

Phenotype

MIM: 615488 MIM: 615487

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

KANSL2 PubMed Links

Gene Details

Gene

KANSL2

Gene Name

KAT8 regulatory NSL complex subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_017822.3	1408	Missense Mutation	ACA,CCA	T445P	NP_060292.3

Gene

MIR1291

Gene Name

microRNA 1291

There are no transcripts associated with this gene.

Gene

SNORA2A

Gene Name

small nucleolar RNA, H/ACA box 2A

There are no transcripts associated with this gene.

Gene

SNORA2C

Gene Name

small nucleolar RNA, H/ACA box 2C

There are no transcripts associated with this gene.

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