Product Details

SNP ID
rs189529380
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.19:2254251 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TCCCCCTGGCGGCAGGCTCTTTTTC[C/T]ATCTTCTTGGGCCTGGTGTCCACAC
Phenotype
MIM: 600957 MIM: 608743 MIM: 600796
Polymorphism
C/T, 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
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_144616.3 663 Missense Mutation ATA,ATG I66M NP_653217.1
XM_017026285.1 663 Missense Mutation ATA,ATG I112M XP_016881774.1
XM_017026286.1 663 Missense Mutation ATA,ATG I112M XP_016881775.1
XM_017026287.1 663 Missense Mutation ATA,ATG I66M XP_016881776.1
Gene
MIR4321
Gene Name
microRNA 4321
There are no transcripts associated with this gene.

Gene
SF3A2
Gene Name
splicing factor 3a subunit 2
There are no transcripts associated with this gene.

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