Product Details

SNP ID

rs148569950

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:561778 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TCCCCACAGGACAGGCATGTTGTTG[C/G]GACTGGCGGCCATGGAGCTGAAGGT

Phenotype

MIM: 612982 MIM: 143023

Polymorphism

C/G, Transversion substitution

Allele Nomenclature

Literature Links

LMNTD2 PubMed Links

Gene Details

Gene

LMNTD2

Gene Name

lamin tail domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_173573.2	448	Intron			NP_775844.2
XM_011519965.2	448	Intron			XP_011518267.2
XM_011519967.2	448	Intron			XP_011518269.2
XM_017017476.1	448	Intron			XP_016872965.1
XM_017017477.1	448	Intron			XP_016872966.1
XM_017017478.1	448	Intron			XP_016872967.1
XM_017017479.1	448	Intron			XP_016872968.1

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	448	Missense Mutation	CGA,GGA	R4G	NP_001137465.1
NM_001143994.1	448	Missense Mutation	CGA,GGA	R4G	NP_001137466.1
NM_003475.3	448	Missense Mutation	CGA,GGA	R4G	NP_003466.1
XM_005253149.3	448	Missense Mutation	CGA,GGA	R52G	XP_005253206.2
XM_005253150.1	448	Missense Mutation	CGA,GGA	R4G	XP_005253207.1
XM_006718338.2	448	Missense Mutation	CGA,GGA	R4G	XP_006718401.1
XM_011520389.1	448	Missense Mutation	CGA,GGA	R4G	XP_011518691.1
XM_017018360.1	448	Missense Mutation	CGA,GGA	R52G	XP_016873849.1
XM_017018361.1	448	Missense Mutation	CGA,GGA	R4G	XP_016873850.1
XM_017018362.1	448	Missense Mutation	CGA,GGA	R4G	XP_016873851.1

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