Product Details

SNP ID

rs147552949

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:63704562 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TATCCAACAGGCAGGGCACTGTGCC[A/G]TTCAGTTTCTCTAGCAGCATCTGGG

Phenotype

MIM: 602539 MIM: 608626

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LIMD2 PubMed Links

Gene Details

Gene

LIMD2

Gene Name

LIM domain containing 2

There are no transcripts associated with this gene.

Gene

LOC729683

Gene Name

uncharacterized LOC729683

There are no transcripts associated with this gene.

Gene

MAP3K3

Gene Name

mitogen-activated protein kinase kinase kinase 3

There are no transcripts associated with this gene.

Gene

STRADA

Gene Name

STE20-related kinase adaptor alpha

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001003786.2	975	Silent Mutation	AAC,AAT	N256N	NP_001003786.1
NM_001003787.2	975	Silent Mutation	AAC,AAT	N293N	NP_001003787.1
NM_001003788.2	975	Silent Mutation	AAC,AAT	N235N	NP_001003788.1
NM_001165969.1	975	Silent Mutation	AAC,AAT	N264N	NP_001159441.1
NM_001165970.1	975	Silent Mutation	AAC,AAT	N249N	NP_001159442.1
NM_153335.5	975	Silent Mutation	AAC,AAT	N256N	NP_699166.2
XM_005257797.2	975	Silent Mutation	AAC,AAT	N285N	XP_005257854.1
XM_005257798.2	975	Silent Mutation	AAC,AAT	N264N	XP_005257855.1
XM_005257799.2	975	Silent Mutation	AAC,AAT	N235N	XP_005257856.1
XM_005257800.2	975	Silent Mutation	AAC,AAT	N293N	XP_005257857.1
XM_005257801.4	975	UTR 3			XP_005257858.1
XM_005257803.4	975	UTR 3			XP_005257860.1
XM_011525466.2	975	Silent Mutation	AAC,AAT	N293N	XP_011523768.1
XM_011525467.2	975	Silent Mutation	AAC,AAT	N258N	XP_011523769.1
XM_017025312.1	975	Silent Mutation	AAC,AAT	N256N	XP_016880801.1
XM_017025313.1	975	Silent Mutation	AAC,AAT	N235N	XP_016880802.1
XM_017025314.1	975	UTR 3			XP_016880803.1

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