Product Details

SNP ID: rs12009071
Assay Type: Functionally tested
NCBI dbSNP Submissions: NA
Location: Chr.X:15825918 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]: TACATGAAGACTCCTTAGATCTTCC[A/C]CCATGTATCTTGTGTGTGCTTATAA
Phenotype: MIM: 300629 MIM: 300028
Polymorphism: A/C, Transversion substitution
Allele Nomenclature
Literature Links: AP1S2 PubMed Links

Gene Details

Gene: AP1S2
Gene Name: adaptor related protein complex 1 sigma 2 subunit

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001272071.1	2217	UTR 3			NP_001259000.1
NM_003916.4	2217	UTR 3			NP_003907.3
XM_005274614.3	2217	Intron			XP_005274671.1
XM_011545599.1	2217	Intron			XP_011543901.1
XM_017029925.1	2217	Intron			XP_016885414.1
XM_017029926.1	2217	Intron			XP_016885415.1

Gene: ZRSR2
Gene Name: zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_005089.3	2217	Intron			NP_005080.1
XM_005274597.2	2217	Intron			XP_005274654.2
XM_011545589.2	2217	Intron			XP_011543891.2
XM_011545590.2	2217	Intron			XP_011543892.2
XM_017029881.1	2217	Intron			XP_016885370.1
XM_017029882.1	2217	Intron			XP_016885371.1
XM_017029883.1	2217	Intron			XP_016885372.1

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