Product Details

SNP ID

rs11551763

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.6:89105197 on Build GRCh38

Set Membership

HapMap

Context Sequence [VIC/FAM]

TCGAGTTCTTCTTTGGCTGGGGCTT[A/C]TTGATCTCCTGTGATCACTTGGAGA

Phenotype

MIM: 615913

Polymorphism

A/C, Transversion substitution

Allele Nomenclature

Literature Links

PM20D2 PubMed Links

Gene Details

Gene

PM20D2

Gene Name

peptidase M20 domain containing 2

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_001010853.2	788	Intron			NP_001010853.1
XM_005248661.2	788	Intron			XP_005248718.1
XM_005248662.4	788	Intron			XP_005248719.1
XM_011535481.2	788	Intron			XP_011533783.1
XM_017010289.1	788	Intron			XP_016865778.1
XM_017010290.1	788	Intron			XP_016865779.1
XM_017010291.1	788	Intron			XP_016865780.1

Gene

SRSF12

Gene Name

serine and arginine rich splicing factor 12

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_080743.4	788	Missense Mutation	AGA,ATA	R113I	NP_542781.3
XM_006715348.2	788	Missense Mutation	AGA,ATA	R18I	XP_006715411.1
XM_011535483.2	788	Missense Mutation	AGA,ATA	R98I	XP_011533785.1
XM_011535484.1	788	Missense Mutation	AGA,ATA	R18I	XP_011533786.1
XM_017010292.1	788	Missense Mutation	AGA,ATA	R113I	XP_016865781.1
XM_017010293.1	788	Missense Mutation	AGA,ATA	R18I	XP_016865782.1

View Full Product Details