Product Details

SNP ID
rs143469082
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:100676106 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
CTGCCCAAGACCCTGGGTACTGTCG[C/T]ATCTTCTGCCACAGGCTCACTTCTT
Phenotype
MIM: 300642 MIM: 300723
Polymorphism
C/T, Transition 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 2369 Missense Mutation ATA,ATG I646M NP_001123368.1
NM_001174068.1 2369 Missense Mutation ATA,ATG I646M NP_001167539.1
NM_080737.2 2369 Missense Mutation ATA,ATG I646M NP_542775.2
XM_005262229.2 2369 Missense Mutation ATA,ATG I646M XP_005262286.1
XM_011531068.2 2369 Missense Mutation ATA,ATG I646M XP_011529370.1
XM_017029966.1 2369 UTR 3 XP_016885455.1
XM_017029967.1 2369 UTR 3 XP_016885456.1
XM_017029968.1 2369 UTR 3 XP_016885457.1
XM_017029969.1 2369 UTR 3 XP_016885458.1
XM_017029970.1 2369 UTR 3 XP_016885459.1
XM_017029971.1 2369 Missense Mutation ATA,ATG I646M XP_016885460.1

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