Product Details

SNP ID

rs200646397

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:561787 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GACAGGCATGTTGTTGGGACTGGCG[A/G]CCATGGAGCTGAAGGTGTGGGTGGA

Phenotype

MIM: 612982 MIM: 143023

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

LMNTD2 PubMed Links

Gene Details

Gene

LMNTD2

Gene Name

lamin tail domain containing 2

There are no transcripts associated with this gene.

Gene

LRRC56

Gene Name

leucine rich repeat containing 56

There are no transcripts associated with this gene.

Gene

MIR210

Gene Name

microRNA 210

There are no transcripts associated with this gene.

Gene

MIR210HG

Gene Name

MIR210 host gene

There are no transcripts associated with this gene.

Gene

RASSF7

Gene Name

Ras association domain family member 7

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143993.1	457	Missense Mutation	ACC,GCC	T7A	NP_001137465.1
NM_001143994.1	457	Missense Mutation	ACC,GCC	T7A	NP_001137466.1
NM_003475.3	457	Missense Mutation	ACC,GCC	T7A	NP_003466.1
XM_005253149.3	457	Missense Mutation	ACC,GCC	T55A	XP_005253206.2
XM_005253150.1	457	Missense Mutation	ACC,GCC	T7A	XP_005253207.1
XM_006718338.2	457	Missense Mutation	ACC,GCC	T7A	XP_006718401.1
XM_011520389.1	457	Missense Mutation	ACC,GCC	T7A	XP_011518691.1
XM_017018360.1	457	Missense Mutation	ACC,GCC	T55A	XP_016873849.1
XM_017018361.1	457	Missense Mutation	ACC,GCC	T7A	XP_016873850.1
XM_017018362.1	457	Missense Mutation	ACC,GCC	T7A	XP_016873851.1

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