Product Details
- SNP ID
-
rs201646571
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.8:38268398 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AGGCAGGCTTGTCTGCTGTCTCTTG[C/T]GTCTGCCTTCTTGAGAAATTTGGCC
- Phenotype
-
MIM: 615003
MIM: 610626
MIM: 607083
- Polymorphism
- C/T, Transition substitution
- Allele Nomenclature
-
- Literature Links
-
DDHD2
PubMed Links
Gene Details
- Gene
- DDHD2
- Gene Name
- DDHD domain containing 2
- Gene
- PLPP5
- Gene Name
- phospholipid phosphatase 5
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001102559.1 |
481 |
Missense Mutation |
ACA,GCA |
T83A |
NP_001096029.1 |
NM_001102560.1 |
481 |
Missense Mutation |
ACA,GCA |
T83A |
NP_001096030.1 |
NM_032483.3 |
481 |
Missense Mutation |
ACA,GCA |
T83A |
NP_115872.2 |
XM_005273661.4 |
481 |
Missense Mutation |
ACA,GCA |
T132A |
XP_005273718.2 |
XM_005273663.3 |
481 |
Missense Mutation |
ACA,GCA |
T132A |
XP_005273720.2 |
XM_011544670.2 |
481 |
Missense Mutation |
ACA,GCA |
T132A |
XP_011542972.1 |
XM_011544671.1 |
481 |
Missense Mutation |
ACA,GCA |
T42A |
XP_011542973.1 |
XM_011544672.1 |
481 |
Missense Mutation |
ACA,GCA |
T26A |
XP_011542974.1 |
XM_011544674.2 |
481 |
Missense Mutation |
ACA,GCA |
T132A |
XP_011542976.1 |
XM_011544675.2 |
481 |
Missense Mutation |
ACA,GCA |
T132A |
XP_011542977.1 |
XM_017013905.1 |
481 |
Missense Mutation |
ACA,GCA |
T132A |
XP_016869394.1 |
XM_017013906.1 |
481 |
Missense Mutation |
ACA,GCA |
T132A |
XP_016869395.1 |
XM_017013907.1 |
481 |
Missense Mutation |
ACA,GCA |
T26A |
XP_016869396.1 |
- Gene
- WHSC1L1
- Gene Name
- Wolf-Hirschhorn syndrome candidate 1-like 1
There are no transcripts associated with this gene.
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