Product Details

SNP ID

rs200706140

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.4:82928225 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTGCCTTTGATTTTCCCTTCTT[G/T]TCTGCCTGCTCTGCCTGGGCAAGGA

Phenotype

MIM: 613367 MIM: 612537

Polymorphism

G/T, Transversion substitution

Allele Nomenclature

Literature Links

LIN54 PubMed Links

Gene Details

Gene

LIN54

Gene Name

lin-54 DREAM MuvB core complex component

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001115007.2	2052	Missense Mutation	GAA,GAC	E488D	NP_001108479.1
NM_001115008.2	2052	Missense Mutation	GAA,GAC	E488D	NP_001108480.1
NM_001288996.1	2052	Missense Mutation	GAA,GAC	E620D	NP_001275925.1
NM_001288997.1	2052	Missense Mutation	GAA,GAC	E488D	NP_001275926.1
NM_194282.3	2052	Missense Mutation	GAA,GAC	E709D	NP_919258.2
XM_005262750.4	2052	Missense Mutation	GAA,GAC	E709D	XP_005262807.1
XM_006714081.3	2052	Missense Mutation	GAA,GAC	E709D	XP_006714144.1
XM_017007728.1	2052	Missense Mutation	GAA,GAC	E620D	XP_016863217.1
XM_017007729.1	2052	Missense Mutation	GAA,GAC	E308D	XP_016863218.1
XM_017007730.1	2052	Missense Mutation	GAA,GAC	E308D	XP_016863219.1

Gene

THAP9

Gene Name

THAP domain containing 9

There are no transcripts associated with this gene.

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