Product Details

SNP ID

rs115737603

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53424443 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTGCTTTGGGATCTGGAACCTGACC[A/C]AAGACCGGGCACAGGTGGAAATGCA

Phenotype

MIM: 600956 MIM: 189906

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

AMHR2 PubMed Links

Gene Details

Gene

AMHR2

Gene Name

anti-Mullerian hormone receptor type 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001164690.1	285	Missense Mutation	AAA,CAA	K69Q	NP_001158162.1
NM_001164691.1	285	Missense Mutation	AAA,CAA	K69Q	NP_001158163.1
NM_020547.2	285	Missense Mutation	AAA,CAA	K69Q	NP_065434.1
XM_011538173.1	285	Missense Mutation	AAA,CAA	K69Q	XP_011536475.1
XM_011538174.1	285	Missense Mutation	AAA,CAA	K69Q	XP_011536476.1
XM_011538176.1	285	Missense Mutation	AAA,CAA	K69Q	XP_011536478.1
XM_011538178.1	285	Missense Mutation	AAA,CAA	K69Q	XP_011536480.1
XM_011538179.1	285	Missense Mutation	AAA,CAA	K69Q	XP_011536481.1
XM_011538180.1	285	UTR 5			XP_011536482.1
XM_011538181.1	285	UTR 5			XP_011536483.1
XM_011538183.2	285	Missense Mutation	AAA,CAA	K69Q	XP_011536485.1
XM_011538184.2	285	Missense Mutation	AAA,CAA	K69Q	XP_011536486.1
XM_011538185.1	285	Missense Mutation	AAA,CAA	K69Q	XP_011536487.1
XM_011538186.2	285	Intron			XP_011536488.1
XM_011538187.2	285	Missense Mutation	AAA,CAA	K69Q	XP_011536489.1
XM_017019179.1	285	Missense Mutation	AAA,CAA	K69Q	XP_016874668.1

Gene

SP1

Gene Name

Sp1 transcription factor

There are no transcripts associated with this gene.

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