Product Details

SNP ID

rs187803948

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:53425466 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

CTTGTCTGTTCCAGCCCTGCTACAG[C/T]GAAAGAACTACAGAGTGCGAGGTGA

Phenotype

MIM: 600956 MIM: 189906

Polymorphism

C/T, Transition 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	594	Nonsense Mutation	CGA,TGA	R172*	NP_001158162.1
NM_001164691.1	594	Nonsense Mutation	CGA,TGA	R172*	NP_001158163.1
NM_020547.2	594	Nonsense Mutation	CGA,TGA	R172*	NP_065434.1
XM_011538173.1	594	Nonsense Mutation	CGA,TGA	R172*	XP_011536475.1
XM_011538174.1	594	Nonsense Mutation	CGA,TGA	R172*	XP_011536476.1
XM_011538176.1	594	Nonsense Mutation	CGA,TGA	R172*	XP_011536478.1
XM_011538178.1	594	Nonsense Mutation	CGA,TGA	R172*	XP_011536480.1
XM_011538179.1	594	Nonsense Mutation	CGA,TGA	R172*	XP_011536481.1
XM_011538180.1	594	Silent Mutation	AGC,AGT	S89S	XP_011536482.1
XM_011538181.1	594	Silent Mutation	AGC,AGT	S89S	XP_011536483.1
XM_011538183.2	594	Nonsense Mutation	CGA,TGA	R172*	XP_011536485.1
XM_011538184.2	594	Nonsense Mutation	CGA,TGA	R172*	XP_011536486.1
XM_011538185.1	594	Nonsense Mutation	CGA,TGA	R172*	XP_011536487.1
XM_011538186.2	594	Missense Mutation	GCG,GTG	A7V	XP_011536488.1
XM_011538187.2	594	Nonsense Mutation	CGA,TGA	R172*	XP_011536489.1
XM_017019179.1	594	Nonsense Mutation	CGA,TGA	R172*	XP_016874668.1

Gene

SP1

Gene Name

Sp1 transcription factor

There are no transcripts associated with this gene.

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