Product Details

SNP ID

rs143270631

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.17:72647598 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

GCGTCTCAGCCCTAGCCCAGGCCAA[C/T]GTCCAGTGACATCATCACTACAAAT

Phenotype

MIM: 616508

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

LINC00511 PubMed Links

Gene Details

Gene

LINC00511

Gene Name

long intergenic non-protein coding RNA 511

There are no transcripts associated with this gene.

Gene

SLC39A11

Gene Name

solute carrier family 39 member 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001159770.1	1106	Missense Mutation	ATT,GTT	I339V	NP_001153242.1
NM_139177.3	1106	Missense Mutation	ATT,GTT	I332V	NP_631916.2
XM_005257134.3	1106	Missense Mutation	ATT,GTT	I332V	XP_005257191.1
XM_006721754.3	1106	Missense Mutation	ATT,GTT	I339V	XP_006721817.1
XM_006721755.2	1106	Missense Mutation	ATT,GTT	I339V	XP_006721818.1
XM_006721756.2	1106	Intron			XP_006721819.1
XM_006721757.2	1106	Missense Mutation	ATT,GTT	I282V	XP_006721820.1
XM_006721758.3	1106	Intron			XP_006721821.1
XM_006721759.1	1106	Intron			XP_006721822.1
XM_011524493.1	1106	Missense Mutation	ATT,GTT	I339V	XP_011522795.1
XM_011524494.2	1106	Missense Mutation	ATT,GTT	I339V	XP_011522796.1
XM_011524495.2	1106	Intron			XP_011522797.1
XM_011524496.2	1106	Intron			XP_011522798.1
XM_011524498.2	1106	Intron			XP_011522800.1
XM_017024330.1	1106	Missense Mutation	ATT,GTT	I332V	XP_016879819.1
XM_017024331.1	1106	Missense Mutation	ATT,GTT	I332V	XP_016879820.1
XM_017024332.1	1106	Missense Mutation	ATT,GTT	I332V	XP_016879821.1
XM_017024333.1	1106	Missense Mutation	ATT,GTT	I289V	XP_016879822.1
XM_017024334.1	1106	Missense Mutation	ATT,GTT	I282V	XP_016879823.1
XM_017024335.1	1106	Missense Mutation	ATT,GTT	I275V	XP_016879824.1
XM_017024336.1	1106	Missense Mutation	ATT,GTT	I289V	XP_016879825.1
XM_017024337.1	1106	Missense Mutation	ATT,GTT	I289V	XP_016879826.1
XM_017024338.1	1106	Intron			XP_016879827.1
XM_017024339.1	1106	Intron			XP_016879828.1
XM_017024340.1	1106	Intron			XP_016879829.1
XM_017024341.1	1106	Intron			XP_016879830.1
XM_017024342.1	1106	Intron			XP_016879831.1

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