Product Details

SNP ID

rs199834187

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:48997480 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TGCTGGGTTCGGGGGGTTGGAACAT[A/C]TTGGGATCGTATCACTACGCACGTG

Phenotype

MIM: 610588 MIM: 602742

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

DDN PubMed Links

Gene Details

Gene

DDN

Gene Name

dendrin

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_015086.1	2019	Missense Mutation	GAT,TAT	D466Y	NP_055901.2
XM_011538055.2	2019	Missense Mutation	GAT,TAT	D412Y	XP_011536357.1

Gene

PRKAG1

Gene Name

protein kinase AMP-activated non-catalytic subunit gamma 1

There are no transcripts associated with this gene.

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