Product Details

SNP ID

rs75071437

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.10:97738631 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTACAAGAGGCTGGAGATCTACCTG[A/G]AACCCTTGAAGGATGCAGGTGATGG

Phenotype

MIM: 610243

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

ZFYVE27 PubMed Links

Gene Details

Gene

ZFYVE27

Gene Name

zinc finger FYVE-type containing 27

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001002261.3	356	Missense Mutation	AAA,GAA	K52E	NP_001002261.1
NM_001002262.3	356	Missense Mutation	AAA,GAA	K52E	NP_001002262.1
NM_001174119.1	356	Missense Mutation	AAA,GAA	K52E	NP_001167590.1
NM_001174120.1	356	Missense Mutation	AAA,GAA	K52E	NP_001167591.1
NM_001174121.1	356	Intron			NP_001167592.1
NM_001174122.1	356	Missense Mutation	AAA,GAA	K52E	NP_001167593.1
NM_144588.6	356	Missense Mutation	AAA,GAA	K52E	NP_653189.3
XM_005269502.3	356	Missense Mutation	AAA,GAA	K52E	XP_005269559.1
XM_005269503.3	356	Missense Mutation	AAA,GAA	K52E	XP_005269560.1
XM_005269504.3	356	Missense Mutation	AAA,GAA	K52E	XP_005269561.1
XM_005269505.4	356	Missense Mutation	AAA,GAA	K52E	XP_005269562.1
XM_005269506.3	356	Missense Mutation	AAA,GAA	K52E	XP_005269563.1
XM_005269508.3	356	UTR 5			XP_005269565.1
XM_005269509.3	356	UTR 5			XP_005269566.1
XM_005269510.3	356	Missense Mutation	AAA,GAA	K52E	XP_005269567.1
XM_005269511.3	356	Missense Mutation	AAA,GAA	K52E	XP_005269568.1
XM_011539252.2	356	Missense Mutation	AAA,GAA	K52E	XP_011537554.1
XM_011539253.2	356	Missense Mutation	AAA,GAA	K52E	XP_011537555.1
XM_011539254.2	356	UTR 5			XP_011537556.1
XM_011539255.2	356	UTR 5			XP_011537557.1
XM_017015644.1	356	Missense Mutation	AAA,GAA	K52E	XP_016871133.1
XM_017015645.1	356	Missense Mutation	AAA,GAA	K52E	XP_016871134.1
XM_017015646.1	356	Missense Mutation	AAA,GAA	K52E	XP_016871135.1
XM_017015647.1	356	Missense Mutation	AAA,GAA	K52E	XP_016871136.1
XM_017015648.1	356	Missense Mutation	AAA,GAA	K52E	XP_016871137.1
XM_017015649.1	356	Missense Mutation	AAA,GAA	K52E	XP_016871138.1
XM_017015650.1	356	UTR 5			XP_016871139.1
XM_017015651.1	356	UTR 5			XP_016871140.1
XM_017015652.1	356	UTR 5			XP_016871141.1
XM_017015653.1	356	UTR 5			XP_016871142.1
XM_017015654.1	356	UTR 5			XP_016871143.1
XM_017015655.1	356	Missense Mutation	AAA,GAA	K52E	XP_016871144.1

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