Product Details
- SNP ID
-
rs200984506
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.6:12718762 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- CATCAAGGATGGATTATCCCAAAAT[G/T]GATTATTTTCTGGATGTAGAGTCTG
- Phenotype
-
MIM: 608723
- Polymorphism
- G/T, Transversion 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 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
NP_001229577.1 |
NM_001322308.1 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
NP_001309237.1 |
NM_001322309.1 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
NP_001309238.1 |
NM_001322310.1 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
NP_001309239.1 |
NM_001322311.1 |
350 |
Intron |
|
|
NP_001309240.1 |
NM_001322312.1 |
350 |
Intron |
|
|
NP_001309241.1 |
NM_001322313.1 |
350 |
Intron |
|
|
NP_001309242.1 |
NM_001322314.1 |
350 |
Intron |
|
|
NP_001309243.1 |
NM_030948.3 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
NP_112210.1 |
XM_005248934.2 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
XP_005248991.1 |
XM_017010452.1 |
350 |
Intron |
|
|
XP_016865941.1 |
XM_017010454.1 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
XP_016865943.1 |
XM_017010455.1 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
XP_016865944.1 |
XM_017010456.1 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
XP_016865945.1 |
XM_017010457.1 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
XP_016865946.1 |
XM_017010458.1 |
350 |
Intron |
|
|
XP_016865947.1 |
XM_017010459.1 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
XP_016865948.1 |
XM_017010460.1 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
XP_016865949.1 |
XM_017010461.1 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
XP_016865950.1 |
XM_017010462.1 |
350 |
Missense Mutation |
ATG,ATT |
M6I |
XP_016865951.1 |
XM_017010463.1 |
350 |
Intron |
|
|
XP_016865952.1 |
XM_017010464.1 |
350 |
Intron |
|
|
XP_016865953.1 |
XM_017010465.1 |
350 |
Intron |
|
|
XP_016865954.1 |
XM_017010466.1 |
350 |
Intron |
|
|
XP_016865955.1 |
XM_017010467.1 |
350 |
Intron |
|
|
XP_016865956.1 |
XM_017010469.1 |
350 |
Intron |
|
|
XP_016865958.1 |
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