Product Details
- SNP ID
-
rs77778840
- Assay Type
- Functionally tested
- NCBI dbSNP Submissions
-
NA
- Location
-
Chr.X:100678538 on Build GRCh38
- Set Membership
-
- Context Sequence [VIC/FAM]
- AATGTATGGTTGTAGTGAGGATTCA[C/G]GGTCTTCTTCATCACAGGAGTTTTA
- Phenotype
-
MIM: 300642
MIM: 300723
- Polymorphism
- C/G, Transversion substitution
- Allele Nomenclature
-
- Literature Links
-
SRPX2
PubMed Links
Gene Details
- Gene
- SRPX2
- Gene Name
- sushi repeat containing protein, X-linked 2
There are no transcripts associated with this gene.
- Gene
- SYTL4
- Gene Name
- synaptotagmin like 4
Transcript Accession |
SNP Location |
SNP Type |
Codon Change |
Amino Acid Change |
Protein ID |
NM_001129896.2 |
1997 |
Missense Mutation |
CTG,GTG |
L574V |
NP_001123368.1 |
NM_001174068.1 |
1997 |
Missense Mutation |
CTG,GTG |
L574V |
NP_001167539.1 |
NM_080737.2 |
1997 |
Missense Mutation |
CTG,GTG |
L574V |
NP_542775.2 |
XM_005262229.2 |
1997 |
Missense Mutation |
CTG,GTG |
L574V |
XP_005262286.1 |
XM_011531068.2 |
1997 |
Missense Mutation |
CTG,GTG |
L574V |
XP_011529370.1 |
XM_017029966.1 |
1997 |
Missense Mutation |
CTG,GTG |
L574V |
XP_016885455.1 |
XM_017029967.1 |
1997 |
Missense Mutation |
CTG,GTG |
L574V |
XP_016885456.1 |
XM_017029968.1 |
1997 |
Missense Mutation |
CTG,GTG |
L574V |
XP_016885457.1 |
XM_017029969.1 |
1997 |
Missense Mutation |
CTG,GTG |
L574V |
XP_016885458.1 |
XM_017029970.1 |
1997 |
Missense Mutation |
CTG,GTG |
L574V |
XP_016885459.1 |
XM_017029971.1 |
1997 |
Missense Mutation |
CTG,GTG |
L574V |
XP_016885460.1 |
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