Product Details

SNP ID

rs200254653

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:555075 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCCGTGTTCTGCACCGACAGGGCCA[C/G]CAGGGGGCAGCTACGGTCCACGCTC

Phenotype

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	1934	Missense Mutation	CTG,GTG	L604V	NP_775844.2
XM_011519965.2	1934	Missense Mutation	CTG,GTG	L677V	XP_011518267.2
XM_011519967.2	1934	Missense Mutation	CTG,GTG	L637V	XP_011518269.2
XM_017017476.1	1934	Missense Mutation	CTG,GTG	L692V	XP_016872965.1
XM_017017477.1	1934	Missense Mutation	CTG,GTG	L687V	XP_016872966.1
XM_017017478.1	1934	Missense Mutation	CTG,GTG	L624V	XP_016872967.1
XM_017017479.1	1934	Intron			XP_016872968.1

Gene

LRRC56

Gene Name

leucine rich repeat containing 56

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_198075.3	1934	Intron			NP_932341.1
XM_005252775.2	1934	Intron			XP_005252832.1
XM_005252776.2	1934	Intron			XP_005252833.1
XM_006718132.2	1934	Intron			XP_006718195.1
XM_006718133.2	1934	Intron			XP_006718196.1
XM_011519875.2	1934	Intron			XP_011518177.1
XM_011519876.1	1934	Intron			XP_011518178.1
XM_011519877.2	1934	Intron			XP_011518179.1
XM_017017167.1	1934	Intron			XP_016872656.1
XM_017017168.1	1934	Intron			XP_016872657.1

Gene

RASSF7

Gene Name

Ras association domain family member 7

There are no transcripts associated with this gene.

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