Product Details

SNP ID

rs200237355

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:101733660 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AGTCAGAAACTGCTGAGAATATTCT[C/T]GGTTAAGCTTCTGCCTGTAAAACAT

Phenotype

MIM: 616747 MIM: 604759

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

CHPT1 PubMed Links

Gene Details

Gene

CHPT1

Gene Name

choline phosphotransferase 1

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_020244.2	503	Intron			NP_064629.2
XM_011538574.1	503	Intron			XP_011536876.1
XM_011538575.1	503	Intron			XP_011536877.1

Gene

SYCP3

Gene Name

synaptonemal complex protein 3

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001177948.1	503	Missense Mutation	CAA,CGA	Q123R	NP_001171419.1
NM_001177949.1	503	Missense Mutation	CAA,CGA	Q123R	NP_001171420.1
NM_153694.4	503	Missense Mutation	CAA,CGA	Q123R	NP_710161.1
XM_005268922.4	503	Missense Mutation	CAA,CGA	Q203R	XP_005268979.3
XM_005268924.1	503	Missense Mutation	CAA,CGA	Q123R	XP_005268981.1
XM_005268925.1	503	Missense Mutation	CAA,CGA	Q123R	XP_005268982.1
XM_005268926.3	503	Missense Mutation	CAA,CGA	Q123R	XP_005268983.1
XM_005268927.2	503	Missense Mutation	CAA,CGA	Q123R	XP_005268984.1
XM_011538421.2	503	Missense Mutation	CAA,CGA	Q177R	XP_011536723.2
XM_017019368.1	503	Missense Mutation	CAA,CGA	Q203R	XP_016874857.1

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