Product Details

SNP ID

rs146172345

Assay Type

Functionally tested

NCBI dbSNP Submissions

NA

Location

Chr.12:45923022 on Build GRCh38

Set Membership

Context Sequence [VIC/FAM]

AATTTTACAGCAGCATTAGAGGCTT[C/T]GCTGTGACTTGATGACGAAGTATTA

Phenotype

MIM: 603668

Polymorphism

C/T, Transition substitution

Allele Nomenclature

Literature Links

SCAF11 PubMed Links

Gene Details

Gene

SCAF11

Gene Name

SR-related CTD associated factor 11

Transcript Accession	SNP Location	SNP Type	Codon Change	Amino Acid Change	Protein ID
NM_004719.2	5845	Missense Mutation	AAA,GAA	K1347E	NP_004710.2
XM_005269230.2	5845	Missense Mutation	AAA,GAA	K1347E	XP_005269287.2
XM_011538984.2	5845	Missense Mutation	AAA,GAA	K1363E	XP_011537286.1
XM_011538985.1	5845	Missense Mutation	AAA,GAA	K1347E	XP_011537287.1
XM_017020217.1	5845	Missense Mutation	AAA,GAA	K1357E	XP_016875706.1
XM_017020218.1	5845	Missense Mutation	AAA,GAA	K1357E	XP_016875707.1
XM_017020219.1	5845	Missense Mutation	AAA,GAA	K1357E	XP_016875708.1
XM_017020220.1	5845	Intron			XP_016875709.1
XM_017020221.1	5845	Missense Mutation	AAA,GAA	K1312E	XP_016875710.1
XM_017020222.1	5845	Missense Mutation	AAA,GAA	K1302E	XP_016875711.1
XM_017020223.1	5845	Missense Mutation	AAA,GAA	K1295E	XP_016875712.1

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