Product Details

SNP ID

rs139243246

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:12718411 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

TAGCATGTGAATTTAACAGTATATG[C/T]TCCAGAGAATATAAAGCAAGGAAAG

Phenotype

MIM: 608723

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

PHACTR1 PubMed Links

Gene Details

Gene

PHACTR1

Gene Name

phosphatase and actin regulator 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001242648.2	254	Intron			NP_001229577.1
NM_001322308.1	254	Intron			NP_001309237.1
NM_001322309.1	254	UTR 5			NP_001309238.1
NM_001322310.1	254	Intron			NP_001309239.1
NM_001322311.1	254	Intron			NP_001309240.1
NM_001322312.1	254	Intron			NP_001309241.1
NM_001322313.1	254	Intron			NP_001309242.1
NM_001322314.1	254	Intron			NP_001309243.1
NM_030948.3	254	Intron			NP_112210.1
XM_005248934.2	254	Intron			XP_005248991.1
XM_017010452.1	254	Intron			XP_016865941.1
XM_017010454.1	254	Intron			XP_016865943.1
XM_017010455.1	254	Intron			XP_016865944.1
XM_017010456.1	254	UTR 5			XP_016865945.1
XM_017010457.1	254	Intron			XP_016865946.1
XM_017010458.1	254	Intron			XP_016865947.1
XM_017010459.1	254	Intron			XP_016865948.1
XM_017010460.1	254	Intron			XP_016865949.1
XM_017010461.1	254	Intron			XP_016865950.1
XM_017010462.1	254	UTR 5			XP_016865951.1
XM_017010463.1	254	Intron			XP_016865952.1
XM_017010464.1	254	Intron			XP_016865953.1
XM_017010465.1	254	Intron			XP_016865954.1
XM_017010466.1	254	Intron			XP_016865955.1
XM_017010467.1	254	Intron			XP_016865956.1
XM_017010469.1	254	Intron			XP_016865958.1

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