Product Details

SNP ID

rs116548172

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.19:2245458 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

ATCCTGTCCGCAGGGCCCGGCGAGC[A/G]GCCAAGGAGGCCAAGGAGGCCCCTG

Phenotype

MIM: 600957 MIM: 608743 MIM: 600796

Polymorphism

A/G, Transition substitution

Allele Nomenclature

Literature Links

AMH PubMed Links

Gene Details

Gene

AMH

Gene Name

anti-Mullerian hormone

There are no transcripts associated with this gene.

Gene

JSRP1

Gene Name

junctional sarcoplasmic reticulum protein 1

There are no transcripts associated with this gene.

Gene

MIR4321

Gene Name

microRNA 4321

There are no transcripts associated with this gene.

Gene

MIR6789

Gene Name

microRNA 6789

There are no transcripts associated with this gene.

Gene

PLEKHJ1

Gene Name

pleckstrin homology domain containing J1

There are no transcripts associated with this gene.

Gene

SF3A2

Gene Name

splicing factor 3a subunit 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_007165.4	380	Silent Mutation	GCA,GCG	A86A	NP_009096.2

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