Name Checker

Please insert a variant description using the HGVS format.

Examples: AB026906.1:c.40_42del, NG_012337.1(SDHD_v001):c.274G>T, LRG_24t1:c.159dup


0 Errors, 0 Warnings.


Overview of the raw variants

Raw variant 1: substitution at 824

AGCACAAACTGCCCAGAATGCAATG C CCCCGCTCAGACCAACATGAAGCTA
AGCACAAACTGCCCAGAATGCAATG T CCCCGCTCAGACCAACATGAAGCTA

View original variant in UCSC Genome Browser

Description relative to transcription start

(Not for use in LSDBs in case of protein-coding transcripts).

NM_003904.3:n.824C>T

Affected transcripts - 1

Affected proteins - 1

NM_003904.3(ZPR1_i001):p.(Ala264Val)

Reference protein

  1  MAASGAVEPG PPGAAVAPSP APAPPPAPDH LFRPISAEDE EQQPTEIESL CMNCYCNGMT
61 RLLLTKIPFF REIIVSSFSC EHCGWNNTEI QSAGRIQDQG VRYTLSVRAL EDMNREVVKT
121 DSAATRIPEL DFEIPAFSQK GALTTVEGLI TRAISGLEQD QPARRANKDA TAERIDEFIV
181 KLKELKQVAS PFTLIIDDPS GNSFVENPHA PQKDDALVIT HYNRTRQQEE MLGLQEEAPA
241 EKPEEEDLRN EVLQFSTNCP ECNAPAQTNM KLVQIPHFKE VIIMATNCEN CGHRTNEVKS
301 GGAVEPLGTR ITLHITDASD MTRDLLKSET CSVEIPELEF ELGMAVLGGK FTTLEGLLKD
361 IRELVTKNPF TLGDSSNPGQ TERLQEFSQK MDQIIEGNMK AHFIMDDPAG NSYLQNVYAP
421 EDDPEMKVER YKRTFDQNEE LGLNDMKTEG YEAGLAPQR*

Protein predicted from variant coding sequence

  1  MAASGAVEPG PPGAAVAPSP APAPPPAPDH LFRPISAEDE EQQPTEIESL CMNCYCNGMT
61 RLLLTKIPFF REIIVSSFSC EHCGWNNTEI QSAGRIQDQG VRYTLSVRAL EDMNREVVKT
121 DSAATRIPEL DFEIPAFSQK GALTTVEGLI TRAISGLEQD QPARRANKDA TAERIDEFIV
181 KLKELKQVAS PFTLIIDDPS GNSFVENPHA PQKDDALVIT HYNRTRQQEE MLGLQEEAPA
241 EKPEEEDLRN EVLQFSTNCP ECNVPAQTNM KLVQIPHFKE VIIMATNCEN CGHRTNEVKS
301 GGAVEPLGTR ITLHITDASD MTRDLLKSET CSVEIPELEF ELGMAVLGGK FTTLEGLLKD
361 IRELVTKNPF TLGDSSNPGQ TERLQEFSQK MDQIIEGNMK AHFIMDDPAG NSYLQNVYAP
421 EDDPEMKVER YKRTFDQNEE LGLNDMKTEG YEAGLAPQR*

Effects on Restriction sites

Raw variant Created Deleted
1 BsmFI

Experimental services

Genomic description: 824C>T

Exon information

Number Start (g.) Stop (g.) Start (c.) Stop (c.)
1 34 1413 1 1380

CDS information

g. c.
Start 34 1
Stop 1413 1380

Links

Download this reference sequence file: NM_003904.3.gb


Name ID Locus tag Product Link method
ZPR1_v001 NM_003904.3 construction
ZPR1_i001 NP_003895.1 zinc finger protein ZPR1 construction

Link methods priorities order: protein (NCBI), locus tag, product tag, exhaustion, and construction.