Product Details

SNP ID

rs139525088

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:19129829 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CGGCGGATCTGAACCTGGAGTGGAT[C/T]TCCCTGCCCCGGTCCTGGACTTACG

Phenotype

MIM: 607770

Polymorphism

C/T, 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	98	Silent Mutation	ATC,ATT	I10I	NP_001137293.2
NM_001190860.2	98	Silent Mutation	ATC,ATT	I10I	NP_001177789.2
NM_001256470.1	98	Silent Mutation	ATC,ATT	I10I	NP_001243399.1
NM_001256787.1	98	Intron			NP_001243716.1
NM_019012.5	98	Silent Mutation	ATC,ATT	I10I	NP_061885.2
XM_005253400.1	98	Silent Mutation	ATC,ATT	I10I	XP_005253457.1
XM_006719091.1	98	Silent Mutation	ATC,ATT	I10I	XP_006719154.1
XM_006719093.1	98	Silent Mutation	ATC,ATT	I10I	XP_006719156.1
XM_006719096.1	98	Silent Mutation	ATC,ATT	I10I	XP_006719159.1
XM_011520714.1	98	Silent Mutation	ATC,ATT	I10I	XP_011519016.1
XM_011520715.1	98	Silent Mutation	ATC,ATT	I10I	XP_011519017.1
XM_011520716.1	98	Silent Mutation	ATC,ATT	I10I	XP_011519018.1
XM_011520717.1	98	Silent Mutation	ATC,ATT	I10I	XP_011519019.1
XM_017019495.1	98	Silent Mutation	ATC,ATT	I10I	XP_016874984.1
XM_017019496.1	98	Silent Mutation	ATC,ATT	I10I	XP_016874985.1
XM_017019497.1	98	Intron			XP_016874986.1
XM_017019498.1	98	Intron			XP_016874987.1
XM_017019499.1	98	Silent Mutation	ATC,ATT	I10I	XP_016874988.1
XM_017019500.1	98	Silent Mutation	ATC,ATT	I10I	XP_016874989.1
XM_017019501.1	98	Silent Mutation	ATC,ATT	I10I	XP_016874990.1
XM_017019502.1	98	Silent Mutation	ATC,ATT	I10I	XP_016874991.1
XM_017019503.1	98	Silent Mutation	ATC,ATT	I10I	XP_016874992.1

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