Product Details
- SNP ID
-
rs150273861
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.14:74286720 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- GGGTACCTTCTCAAGGCTCTGCCGA[C/T]GTCCCACACTGATGAACGTCATCCC
- Phenotype
-
MIM: 603214
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
ABCD4
PubMed Links
Gene Details
- Gene
- ABCD4
- Gene Name
- ATP binding cassette subfamily D member 4
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_005050.3 |
1779 |
Missense Mutation |
CAT,CGT |
H578R |
NP_005041.1 |
XM_005267939.3 |
1779 |
Missense Mutation |
CAT,CGT |
H440R |
XP_005267996.1 |
XM_005267940.3 |
1779 |
Missense Mutation |
CAT,CGT |
H440R |
XP_005267997.1 |
XM_005267941.4 |
1779 |
Missense Mutation |
CAT,CGT |
H440R |
XP_005267998.1 |
XM_005267942.4 |
1779 |
Missense Mutation |
CAT,CGT |
H440R |
XP_005267999.1 |
XM_005267946.3 |
1779 |
Missense Mutation |
CAT,CGT |
H419R |
XP_005268003.1 |
XM_005267949.3 |
1779 |
Missense Mutation |
CAT,CGT |
H419R |
XP_005268006.1 |
XM_006720223.2 |
1779 |
Missense Mutation |
CAT,CGT |
H491R |
XP_006720286.1 |
XM_011537041.2 |
1779 |
Missense Mutation |
CAT,CGT |
H487R |
XP_011535343.1 |
XM_017021531.1 |
1779 |
UTR 3 |
|
|
XP_016877020.1 |
XM_017021532.1 |
1779 |
Missense Mutation |
CAT,CGT |
H536R |
XP_016877021.1 |
XM_017021533.1 |
1779 |
Missense Mutation |
CAT,CGT |
H536R |
XP_016877022.1 |
XM_017021534.1 |
1779 |
Missense Mutation |
CAT,CGT |
H374R |
XP_016877023.1 |
XM_017021535.1 |
1779 |
Missense Mutation |
CAT,CGT |
H315R |
XP_016877024.1 |
XM_017021536.1 |
1779 |
Missense Mutation |
CAT,CGT |
H315R |
XP_016877025.1 |
XM_017021537.1 |
1779 |
Missense Mutation |
CAT,CGT |
H315R |
XP_016877026.1 |
XM_017021538.1 |
1779 |
Missense Mutation |
CAT,CGT |
H315R |
XP_016877027.1 |
XM_017021539.1 |
1779 |
Missense Mutation |
CAT,CGT |
H315R |
XP_016877028.1 |
XM_017021540.1 |
1779 |
Missense Mutation |
CAT,CGT |
H315R |
XP_016877029.1 |
XM_017021541.1 |
1779 |
Missense Mutation |
CAT,CGT |
H315R |
XP_016877030.1 |
XM_017021542.1 |
1779 |
Missense Mutation |
CAT,CGT |
H315R |
XP_016877031.1 |
XM_017021543.1 |
1779 |
Missense Mutation |
CAT,CGT |
H315R |
XP_016877032.1 |
XM_017021544.1 |
1779 |
UTR 3 |
|
|
XP_016877033.1 |
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