Product Details

SNP ID

rs78739424

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:19129809 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCTAGGGATCAGACATGGCGGCG[A/G]ATCTGAACCTGGAGTGGATCTCCCT

Phenotype

MIM: 607770

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PLEKHA5 PubMed Links

Gene Details

Gene

PLEKHA5

Gene Name

pleckstrin homology domain containing A5

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001143821.2	78	Missense Mutation	AAT,GAT	N4D	NP_001137293.2
NM_001190860.2	78	Missense Mutation	AAT,GAT	N4D	NP_001177789.2
NM_001256470.1	78	Missense Mutation	AAT,GAT	N4D	NP_001243399.1
NM_001256787.1	78	Intron			NP_001243716.1
NM_019012.5	78	Missense Mutation	AAT,GAT	N4D	NP_061885.2
XM_005253400.1	78	Missense Mutation	AAT,GAT	N4D	XP_005253457.1
XM_006719091.1	78	Missense Mutation	AAT,GAT	N4D	XP_006719154.1
XM_006719093.1	78	Missense Mutation	AAT,GAT	N4D	XP_006719156.1
XM_006719096.1	78	Missense Mutation	AAT,GAT	N4D	XP_006719159.1
XM_011520714.1	78	Missense Mutation	AAT,GAT	N4D	XP_011519016.1
XM_011520715.1	78	Missense Mutation	AAT,GAT	N4D	XP_011519017.1
XM_011520716.1	78	Missense Mutation	AAT,GAT	N4D	XP_011519018.1
XM_011520717.1	78	Missense Mutation	AAT,GAT	N4D	XP_011519019.1
XM_017019495.1	78	Missense Mutation	AAT,GAT	N4D	XP_016874984.1
XM_017019496.1	78	Missense Mutation	AAT,GAT	N4D	XP_016874985.1
XM_017019497.1	78	Intron			XP_016874986.1
XM_017019498.1	78	Intron			XP_016874987.1
XM_017019499.1	78	Missense Mutation	AAT,GAT	N4D	XP_016874988.1
XM_017019500.1	78	Missense Mutation	AAT,GAT	N4D	XP_016874989.1
XM_017019501.1	78	Missense Mutation	AAT,GAT	N4D	XP_016874990.1
XM_017019502.1	78	Missense Mutation	AAT,GAT	N4D	XP_016874991.1
XM_017019503.1	78	Missense Mutation	AAT,GAT	N4D	XP_016874992.1

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