Product Details

SNP ID

rs546502

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.11:70272383 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

CTTAACCCAGGGGAAGTTACACGAG[A/G]TTGGTCATGAAAGAGATTCCTTGCA

Phenotype

MIM: 611054

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

PPFIA1 PubMed Links

Gene Details

Gene

PPFIA1

Gene Name

PTPRF interacting protein alpha 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_003626.3	439	Missense Mutation	ATT,GTT	I71V	NP_003617.1
NM_177423.2	439	Missense Mutation	ATT,GTT	I71V	NP_803172.1
XM_006718716.3	439	Missense Mutation	ATT,GTT	I71V	XP_006718779.1
XM_011545306.2	439	Missense Mutation	ATT,GTT	I71V	XP_011543608.1
XM_011545307.2	439	Missense Mutation	ATT,GTT	I71V	XP_011543609.1
XM_011545308.2	439	Missense Mutation	ATT,GTT	I71V	XP_011543610.1
XM_011545309.2	439	Missense Mutation	ATT,GTT	I71V	XP_011543611.1
XM_011545310.2	439	Missense Mutation	ATT,GTT	I71V	XP_011543612.1
XM_011545311.2	439	Missense Mutation	ATT,GTT	I71V	XP_011543613.1
XM_011545312.2	439	Missense Mutation	ATT,GTT	I71V	XP_011543614.1
XM_011545313.2	439	Missense Mutation	ATT,GTT	I71V	XP_011543615.1
XM_011545314.2	439	Missense Mutation	ATT,GTT	I71V	XP_011543616.1
XM_011545315.2	439	Missense Mutation	ATT,GTT	I71V	XP_011543617.1
XM_011545316.2	439	Missense Mutation	ATT,GTT	I71V	XP_011543618.1
XM_011545317.2	439	Missense Mutation	ATT,GTT	I71V	XP_011543619.1
XM_011545318.2	439	Intron			XP_011543620.1
XM_011545319.1	439	Missense Mutation	ATT,GTT	I71V	XP_011543621.1
XM_017018448.1	439	Missense Mutation	ATT,GTT	I71V	XP_016873937.1
XM_017018449.1	439	Missense Mutation	ATT,GTT	I71V	XP_016873938.1
XM_017018450.1	439	Missense Mutation	ATT,GTT	I71V	XP_016873939.1

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